Research Publications
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Rossor AM, Haddad S, Reilly MM. The evolving spectrum of complex inherited neuropathies. Curr Opin Neurol. 2024 Oct 1;37(5):427-444. doi: 10.1097/WCO.0000000000001307. Epub 2024 Jul 31.
Fennessy JR, Cornett KMD, Donlevy GA, Mckay MJ, Burns J, Menezes MP. Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations. Dev Med Child Neurol. 2024 Sep 9. doi: 10.1111/dmcn.16083. Epub ahead of print. PMID: 39252496.
Riboflavin transporter deficiency (RTD) is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Without treatment, children with RTD can experience life-threatening respiratory failure. The only known effective treatment is high-dose oral riboflavin. To provide accurate prognosis information to newly diagnosed families and learn if additional treatments are required, more data is needed about the long-term effects of oral riboflavin supplementation.
In this study, researchers explored the long-term outcomes of children with RTD who were supplemented with high-dose oral riboflavin. The team assessed disease progression in 11 children with RTD, following up each year until they transitioned to adult services.
Results show that children with RTD who were treated early after symptom onset had better long-term outcomes. However, although treatment with riboflavin slowed disease progression, patients were left with residual disability. To track disease progression and treatment response over time, authors recommend regular surveillance using the RTD Pediatric Scale, as well as the provided list of clinical measures.
Record CJ, Pipis M, Skorupinska M, Blake J, Poh R, Polke JM, Eggleton K, Nanji T, Zuchner S, Cortese A, Houlden H, Rossor AM, Laura M, Reilly MM. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain. 2024 Sep 3;147(9):3144-3156. doi: 10.1093/brain/awae064. PMID: 38481354; PMCID: PMC11370804.
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological diseases, with more than 130 disease-causing genes. Although whole-genome sequencing has improved diagnosis across genetic diseases, the impact in CMT has not yet been explored.
In this study, researchers investigated the impact of whole-genome sequencing on the diagnostic rate of CMT. The team reviewed diagnostic results from 1,515 patients with a clinical diagnosis of CMT and related disorders at a single specialist inherited neuropathy center.
Results show a 3.5% increase in the diagnostic rate of participants due to whole-genome sequencing. Although the center’s diagnostic rate is the highest reported, almost one-quarter of all cases are still unsolved. Authors note that a new reference genome and technologies will help to improve diagnosis.
Henning F, Naidu K, Record CJ, Dominik N, Vandrovcova J, Lubbe F, Dercksen M; ICGNMD Consortium; Wilson LA, Van Der Westhuizen F, Reilly MM, Houlden H, Hanna MG, Carr J. Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant. Mov Disord Clin Pract. 2024 Aug 2. doi: 10.1002/mdc3.14178. Epub ahead of print. PMID: 39092477.
Peroxisome biogenesis disorders (PBDs), also known as Zellweger spectrum, are a group of genetic conditions that affect many parts of the body. PBDs are characterized by failure of the body to produce properly functioning peroxisomes, which are membrane-bound organelles involved in a variety of metabolic reactions. These disorders are usually caused by variants in peroxin (PEX) genes.
In this report, researchers expand the phenotype of peroxisome biogenesis disorders by uncovering a new genetic variant. The team performed whole exome sequencing in two patients presenting with late-onset PBD, including movement disorders noticed at age 34 and 41, respectively.
Results revealed a new PEX11B variant in these patients. Symptoms included dystonia, ataxia, and tremor, which had not been previously described in PBDs. Authors note that movement disorders may only manifest at a later age in patients with PBD.
Yanick C, Maciel R, Jacobs E, Schatzman J, Shy M, Zuchner S, Saporta M. Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy. Stem Cell Res. 2024 Aug;78:103449. doi: 10.1016/j.scr.2024.103449. Epub 2024 May 22.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. PMID: 38527963; PMCID: PMC11224604.
Distal hereditary motor neuropathies (dHMNs) are a diverse group of rare neuromuscular disorders characterized by muscle weakness and atrophy. Clinical and genetic overlap among hereditary neurological disorders highlights the potential of a shared molecular cause.
In this study, researchers describe a new subtype of recessive dHMN caused by deficiency of the RTN2 protein. The team used exome, genome, and Sanger sequencing techniques coupled with deep-phenotyping to identify and validate seven new or ultra-rare variants in the RTN2 gene in 14 individuals with dHMN.
Findings reveal that this new subtype shares similarities with two other subtypes of dHMN—SIGMAR1-related disorder and Silver-like syndromes. Authors note that this study provides valuable insights on the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN.
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. J Peripher Nerv Syst. 2024 Jun;29(2):202-212. doi: 10.1111/jns.12621. Epub 2024 Apr 5. PMID: 38581130; PMCID: PMC11209807.
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Although all cases of CMT1A are caused by duplications of the PMP22 gene, each case can have significant differences in severity, which may result from genetic modifiers.
In this study, researchers analyzed genetic modifiers to characterize severity in patients with CMT1A. The team reviewed clinical examination results from 1,564 patients in a natural history study conducted by the Inherited Neuropathy Consortium (INC). Next, the team identified extreme cases (mild and severe) among these patients.
Results reveal insights on genetic modifiers that have significant effects on the severity and course of CMT1A. Authors note that the metrics used in this study can also improve patient enrollment strategies for future studies.
Murray GC, Hines TJ, Tadenev ALD, Xu I, Zuchner S, Burgess RW. Testing SIPA1L2 as a modifier of CMT1A using mouse models. J Neuropathol Exp Neurol. 2024 Mar 12:nlae020. doi: 10.1093/jnen/nlae020. Online ahead of print.
Tomaselli PJ, Blake J, Polke JM, do Nascimento OJM, Reilly MM, Marques Júnior W, Laurá M. Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A. Eur J Neurol. 2024 Feb 26:e16199. doi: 10.1111/ene.16199. Epub ahead of print. PMID: 38409938.
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of inherited peripheral neuropathy, is caused by duplication of the PMP22 gene. Individuals with CMT1A experience slow nerve conduction velocity (the speed of electrical impulses moving through nerves). Because most patients have nerve conduction rates below 38 meters per second, genetic testing for PMP22 duplication is not usually recommended for those with higher rates.
In this study, researchers report cases of intermediate nerve conduction velocity in two patients with CMT1A. Both individuals had upper limb motor nerve conduction velocities above 38 meters per second. These patients also presented with very mild forms of CMT1A.
Authors note that although these cases are very rare, they highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities.
Ptak CP, Peterson TA, Hopkins JB, Ahern CA, Shy ME, Piper RC. Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease. Brain. 2023 Dec 1;146(12):5110-5123. doi: 10.1093/brain/awad258.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158.
Pipis M, Won S, Poh R, Efthymiou S, Polke JM, Skorupinska M, Blake J, Rossor AM, Moran JJ, Munot P, Muntoni F, Laura M, Svaren J, Reilly MM. Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Brain. 2023 Oct 3;146(10):4025-4032. doi: 10.1093/brain/awad203. PMID: 37337674; PMCID: PMC10545524
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of inherited peripheral neuropathy, is caused by a copy number variation (CNV) in the PMP22 gene. In rodent models of CMT1A, overexpression of miR-29a, a type of microRNA, has been shown to reduce the PMP22 transcript and protein level.
In this study, researchers demonstrate for the first time how imbalance in the microRNA-mediated regulation of gene expression can mimic a CNV-associated disease in humans. Study participants included a family of CMT1A patients enrolled in a natural history study.
Authors state that these findings show the importance of miR-29a in regulating PMP22 expression and could lead to development of new therapeutic drugs.
Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, Zuchner S, Reilly MM. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. Eur J Neurol. 2023 Sep 29. doi: 10.1111/ene.16063. Epub ahead of print. PMID: 37772343
Charcot–Marie–Tooth disease type 2 (CMT2), also known as hereditary motor and sensory neuropathy, is a disorder affecting nerve axons (ends of the nerves) which carry signals from the brain to the extremities. While mutations in the alpha-B-crystallin (CRYAB) gene have been associated with myofibrillar myopathy, dilated cardiomyopathy, and cataracts, they have not previously included peripheral neuropathy.
In this study, researchers expand the phenotype (observable characteristics) of CRYAB-related disease to include CMT2. The team performed whole-exome sequencing in two unrelated families with genetically unsolved axonal CMT2, assessing clinical, neurophysiological, and radiological features.
Results identify CRYAB mutations as a cause of CMT2 in these patients. Authors note that CRYAB mutations should be suspected in cases with late-onset CMT2, especially in the presence of congenital cataracts.
Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS, Scherer SS, Zuchner S, Shy ME, Reilly MM, Herrmann DN. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Brain. 2023 Sep 1;146(9):3826-3835. doi: 10.1093/brain/awad095. PMID: 36947133; PMCID: PMC10473553
Charcot-Marie-Tooth disease type 4C (CMT4C) is an inherited, degenerative disorder affecting the nerves that travel to the feet and hands. CMT4C is caused by recessive variants in the SH3TC2 gene and characterized by early onset spinal deformities, as well as a wide spectrum of symptoms and severity. Currently, not much is known about the relationship between pathogenic (disease-causing) variants and disease manifestations.
In this study, researchers explored the natural history of CMT4C by gathering genetic and clinical data from the Inherited Neuropathy Consortium (INC). The team examined symptoms, neurological examinations, and neurophysiological characteristics over time in 56 individuals with CMT4C.
The resulting analysis marks the largest cross-sectional and only longitudinal study to date of the clinical phenotype of both adults and children with CMT4C. Authors note that by further defining the natural history of CMT4C, these data will help inform study design of future clinical trials for genetic treatments.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18.
Donlevy GA, Cornett KMD, Garnett SP, Shy R, Estilow T, Yum SW, Anderson K, Pareyson D, Moroni I, Muntoni F, Reilly MM, Finkel RS, Herrmann DN, Eichinger KJ, Shy ME, Burns J, Menezes MP. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. Neurology. 2023 Aug 15;101(7):e717-e727. doi: 10.1212/WNL.0000000000207488. Epub 2023 Jun 28. PMID: 37380432; PMCID: PMC10437011
Charcot-Marie-Tooth disease (CMT) is a group of disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. Symptoms include weakness, sensory loss, muscle atrophy (wasting), and foot deformities.
In this study, researchers evaluated the impact of body mass index (BMI) on disease progression over two years in children with CMT. Among 242 participants aged 3–20 years with CMT, the team categorized groups by BMI and assessed disease severity using the CMT Pediatric Scale (CMTPedS).
Results show that children with CMT who were severely underweight, underweight, or obese exhibited greater disability at baseline. Over the two-year period in those whose BMI remained stable, severely underweight children deteriorated at the fastest rate. For children who changed BMI categories over the two years, CMTPedS scores deteriorated faster in those who became overweight or obese. Authors note that interventions to maintain or improve BMI toward healthy weight may reduce disability in children with CMT.
Ajjarapu A, Feely SME, Shy ME, Trout C, Zuchner S, Moore SA, Mathews KD. Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1. Case Rep Neurol. 2023 Jun 12;15(1):146-152. doi: 10.1159/000530974. eCollection 2023 Jan-Dec.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 Jun 7:awad187. doi: 10.1093/brain/awad187. Online ahead of print.
Zhu Y, Lobato AG, Rebelo AP, Canic T, Ortiz-Vega N, Tao X, Syed S, Yanick C, Saporta M, Shy M, Perfetti R, Shendelman S, Zuchner S, Zhai RG. Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency. JCI Insight. 2023 May 22;8(10):e164954. doi: 10.1172/jci.insight.164954.
Reilly MM, Herrmann DN, Pareyson D, Scherer SS, Finkel RS, Zuchner S, Burns J, Shy ME. Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints. Ann Neurol. 2023 May;93(5):906-910. doi: 10.1002/ana.26633. Epub 2023 Mar 21.
Record CJ, Pipis M, Poh R, Polke JM, Reilly MM. Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):327-328. doi: 10.1136/jnnp-2022-330223. Epub 2022 Nov 14.
Silsby M, Feldman EL, Dortch RD, Roth A, Haroutounian S, Rajabally YA, Vucic S, Shy ME, Oaklander AL, Simon NG. Advances in diagnosis and management of distal sensory polyneuropathies. J Neurol Neurosurg Psychiatry. 2023 Mar 30:jnnp-2021-328489. doi: 10.1136/jnnp-2021-328489. Online ahead of print.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28.
Leone E, Davenport S, Robertson C, Laurà M, Skorupinska M, Reilly MM, Ramdharry G. Incidence and risk factors for patellofemoral dislocation in adults with Charcot-Marie-Tooth disease: An observational study. Physiother Res Int. 2023 Feb 19;28(3):e1996. doi: 10.1002/pri.1996. Online ahead of print.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure. J Peripher Nerv Syst. 2023 Feb 7. doi: 10.1111/jns.12538. Epub ahead of print. PMID: 36748295.
Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and sensory endings. With symptoms including weakness, sensory loss, muscle atrophy (wasting), balance problems, and foot deformities, CMT is known to reduce health-related quality of life (QOL) in children as well as adults. However, there is currently no parent-proxy CMT QOL outcome measure for use in children for either natural history studies or clinical trials.
In this study, researchers describe the validation of the parent-proxy pediatric CMT-QOL outcome measure for children aged 8 to 18 years. After developing a working version of the outcome measure, the team administered this version to 358 parents of children with CMT seen at the participating study sites of the Inherited Neuropathy Consortium from 2010 to 2016. Results from the parent-proxy version were compared with previously published results completed by the children themselves. To develop the final version, researchers performed rigorous tests of the data, including psychometric analysis, factor analysis, test-retest reliability, internal consistency, convergent validity, IRT analysis, and longitudinal analysis.
Results show that the parent-proxy version of the pediatric CMT-QOL outcome measure is a reliable, valid, and sensitive proxy measure of health-related QOL for children aged 8 to 18 with CMT.
Kapoor M, Carr A, Foiani M, Heslegrave A, Zetterberg H, Malaspina A, Compton L, Hutton E, Rossor A, Reilly MM, Lunn MP. Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy. Eur J Neurol. 2022 Nov;29(11):3347-3357. doi: 10.1111/ene.15496. Epub 2022 Jul 25.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0. PMID: 36242072; PMCID: PMC9569031.
Neuromyotonia and axonal neuropathy (NMAN) is a rare peripheral neuropathy and subtype of Charcot-Marie-Tooth disease. NMAN is characterized by damage to nerve axons (nerve ends) and overactivation of peripheral nerves. The disease is caused by mutations in the HINT1 gene, which are among the most common causes of recessive neuropathy. Most patients with NMAN are found to have an HINT1 variant that has spread throughout Eurasia and America. In this study, researchers performed the first analysis of NMAN in Lithuania. The team identified eight patients from 46 families with variations in the HINT1 gene, including a new variant. Study participants showed typical symptoms associated with NMAN (such as motor impairment in lower limbs), but also some atypical features (such as developmental delay and mood problems). In addition to expanding the understanding of NMAN, these findings may help diagnose inherited neuropathies in the Baltic region and beyond. Authors note that study results could also impact future therapeutic strategies, as a patient’s specific genetic mutation will determine their treatment options.
Record CJ, Alsukhni RA, Curro R, Kaski D, Rubin JS, Morris HR, Cortese A, Iodice V, Reilly MM. Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism. J Peripher Nerv Syst. 2022 Sep 30. doi: 10.1111/jns.12515. Epub ahead of print. PMID: 36177974.
Recently, biallelic (both alleles of a single gene) expansions in the RFC1 gene have been found to cause several neurological disorders in addition to a form of inherited neuropathy known as CANVAS (cerebellar ataxia, neuropathy, and vestibular areflexia syndrome). There are also descriptions of Parkinsonism and a multiple system atrophy (MSA)-like syndrome. However, the profile of the autonomic nervous system in a patient with CANVAS/MSA-like overlap syndrome had not yet been fully characterized. In this study, researchers present the first detailed description of autonomic characteristics in a patient with multisystem RFC1-related disease. Initially presenting with CANVAS, the patient developed Parkinsonism, cardiovascular failure, and severe autonomic failure similar to classical MSA. Results suggest that patients with an MSA-like syndrome, plus signs of vestibular (balance) failure or sensory neuropathy, should be tested for the RFC1 expansion. Authors also note that the link between MSA and CANVAS should be further explored.
Eichinger K, Sowden JE, Burns J, McDermott MP, Krischer J, Thornton J, Pareyson D, Scherer SS, Shy ME, Reilly MM, Herrmann DN. Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A. Front Neurol. 2022 Jun 27;13:930435. doi: 10.3389/fneur.2022.930435. eCollection 2022.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9.
Record CJ, Pipis M, Blake J, Curro R, Lunn MP, Rossor AM, Laura M, Cortese A, Reilly MM. Unusual upper limb features in SORD neuropathy. J Peripher Nerv Syst. 2022 Apr 13. doi: 10.1111/jns.12492. Online ahead of print.
Morikawa M, Jerath NU, Ogawa T, Morikawa M, Tanaka Y, Shy ME, Zuchner S, Hirokawa N. A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. EMBO J. 2022 Mar 1;41(5):e108899. doi: 10.15252/embj.2021108899. Epub 2022 Feb 8. PMID: 35132656.
Charcot-Marie-Tooth (CMT) is a group of inherited, degenerative disorders affecting the nerves that travel to the feet and hands, causing muscle weakness, problems with balance and sensation as well as other symptoms. Axonal transport (a process essential for nerve development, function, and survival) mediated by the KIF1A gene is driven by interaction cycles between the kinesin (motor protein)’s motor and neck domains. In this study, researchers characterized a KIF1A mutant identified in a family with axonal-type CMT and other cases of human neuropathies. This characterization reveals that dynamic dissociation of the motor-neck interaction via the β7 (integrin protein) domain is essential for neuronal function.
Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):48-56. doi: 10.1136/jnnp-2021-327186. Epub 2021 Sep 13. PMID: 34518334; PMCID: PMC8685631.
Rossor AM, Kapoor M, Wellington H, Spaulding E, Sleigh JN, Burgess RW, Laura M, Zetterberg H, Bacha A, Wu X, Heslegrave A, Shy ME, Reilly MM. A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2021 Dec 1. doi: 10.1111/jns.12477. Online ahead of print.
Kapoor M, Compton L, Rossor A, Hutton E, Manji H, Lunn M, Reilly M, Carr A. An approach to assessing immunoglobulin dependence in chronic inflammatory demyelinating inflammatory polyneuropathy. J Peripher Nerv Syst. 2021 Dec;26(4):461-468. doi: 10.1111/jns.12470. Epub 2021 Oct 20.
Ramdharry GM, Wallace A, Hennis P, Dewar E, Dudziec M, Jones K, Pietrusz A, Reilly MM, Hanna MG. Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases. Muscle Nerve. 2021 Dec;64(6):683-690. doi: 10.1002/mus.27423. Epub 2021 Oct 6.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics; Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. PMID: 34796871; PMCID: PMC8735862.
Baty K, Farrugia ME, Hopton S, Falkous G, Schaefer AM, Stewart W, Willison HJ, Reilly MM, Blakely EL, Taylor RW, Ng YS. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. Neuromuscul Disord. 2021 Nov;31(11):1186-1193. doi: 10.1016/j.nmd.2021.05.014. Epub 2021 Jun 4.
McCray BA, Scherer SS. Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities. Neurotherapeutics. 2021 Oct 4. doi: 10.1007/s13311-021-01099-2. Online ahead of print.
In this review paper, two researchers associated with the Inherited Neuropathies Consortium offer an overview of Charcot-Marie-Tooth disease type 2 (CMT2), a group of genetic neuropathies that primarily cause axonal degeneration (damage to the portion of the nerve that carries nerve impulses away from the cell body) rather than demyelination (damage to the protective covering that surrounds nerve fibers). They review gene identification efforts over the past three decades and emerging treatment strategies. Promising strategies include specific approaches for single forms of neuropathy as well as more general approaches that have the potential to treat multiple types of neuropathy. The INC is particularly pleased because coauthor Brett Andrew McCray, MD, PhD, of Johns Hopkins is a recent INC scholar who was supported by a Career Enhancement Award.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1.
Researchers have identified a pathway common to several types of axonal peripheral neuropathies (APNs), including multiple forms of Charcot-Marie-Tooth (CMT) disease, and have identified a possible drug target that could help treat the disorder. The research was led by Robert W. Burgess, PhD, Emily Spaulding, and their team at The Jackson Laboratory in Maine. Researchers with the RDCRN’s Inherited Neuropathies Consortium (INC) contributed by providing patient material to add a human disease component to the team’s efforts. “The serum samples provide by the INC were a way for us to test whether the same mechanisms we found in our mouse models were also involved in patients,” says Burgess, senior author on the study. “As an unexpected bonus, it led to the identification of GDF15 as a possible biomarker, which is being investigated further.” The study, which was published in Science, was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, and featured in a recent NIH media advisory. APNs cause the body’s peripheral nerves to wither and degenerate, which makes them unable to send messages to the muscles or to transmit sensory signals back to the spinal cord. While usually not life-threatening, APNs typically result in some measure of disability. Genetic studies have shown that many APNs are caused by mutations that affect how proteins are built within cells. Proteins are made by first transcribing the DNA code into messenger RNA (mRNA). The mRNA is then transcribed by transfer RNA (tRNA) molecules that string together amino acids in the proper sequence, like building a train track. The mutations underlying APNs affect the enzymes responsible for adding amino acid blocks to tRNA. Previous work in flies showed that these mutations inhibit cells’ ability to make proteins. This causes stress within the motor neurons affected by APNs, particularly through a mechanism called the integrated stress response (ISR), ultimately leading to degeneration of nerve structures. Of the proteins previously implicated in the activation of the ISR, one of them, GCN2, had also been connected to defects in protein translation. Using a mouse model, the researchers looked at APN mice that were also missing GCN2. These mice began to develop symptoms of the disease around two weeks of age, but the disease did not progress much beyond the initial stages. When the APN mice were instead treated with a drug to stop GCN2 from working, they showed improvements in many symptoms.
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W Jr, Zuchner S. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. J Neurol Sci. 2021 Aug 15;427:117498. doi: 10.1016/j.jns.2021.117498. Epub 2021 May 18.
Heredity sensory neuropathies (HSNs) are rare neurological disorders where peripheral neurons and axons are affected, leading to delayed sensations of pain, delayed healing, infections, osteomyelitis, and infections. Researchers performed a whole genome sequencing (WGS) study of 23 unrelated Brazilian families diagnosed with hereditary sensory neuropathies. They detected pathogenic variants in 21.7% of families that caused symptoms such as congenital insensitivity to pain, sensory deficits, neuropathic pain, and recurrent ulcerations. Authors suggest that most of the cases could be explained by yet to be discovered genes or unusual alleles. They say that first mutational screen in a Brazilian HSN cohort offers insights for genotype-phenotype correlations, reducing misdiagnoses, and providing early treatment considerations.
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Howard P, Feely SME, Grider T, Bacha A, Scarlato M, Fazio R, Quattrini A, Shy ME, Previtali SC. Loss of function MPZ mutation causes milder CMT1B neuropathy. J Peripher Nerv Syst. 2021 May 7. doi: 10.1111/jns.12452. Online ahead of print.
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Reilly MM, Rossor AM. Humans: the ultimate animal models. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1132-1136. doi: 10.1136/jnnp-2020-323016. Epub 2020 Aug 7.
Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17.
Franco A, Dang X, Walton EK, Ho JN, Zablocka B, Ly C, Miller TM, Baloh RH, Shy ME, Yoo AS, Dorn GW 2nd. Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A. Elife. 2020 Oct 19;9:e61119. doi: 10.7554/eLife.61119.
Edgar JR, Ho AK, Laurá M, Horvath R, Reilly MM, Luzio JP, Roberts RC. A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease. Acta Neuropathol Commun. 2020 Oct 15;8(1):165. doi: 10.1186/s40478-020-01043-z.
Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263.
Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH. A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain. 2020 Sep 1;143(9):2673-2680. doi: 10.1093/brain/awaa203.
Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ. Reliability of the Charcot-Marie-Tooth functional outcome measure. J Peripher Nerv Syst. 2020 Sep;25(3):288-291. doi: 10.1111/jns.12406. Epub 2020 Aug 26.
Pisciotta C, Ciafaloni E, Zuccarino R, Calabrese D, Saveri P, Fenu S, Tramacere I, Genovese F, Dilek N, Johnson NE, Heatwole C, Herrmann DN, Pareyson D; ACT-CMT Study Group. Validation of the Italian version of the Charcot-Marie-Tooth Health Index. J Peripher Nerv Syst. 2020 Sep;25(3):292-296. doi: 10.1111/jns.12397. Epub 2020 Jun 24.
Sullivan R, Yau WY, Chelban V, Rossi S, O'Connor E, Wood NW, Cortese A, Houlden H. RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy. Mov Disord. 2020 Jul;35(7):1277-1279. doi: 10.1002/mds.28074. Epub 2020 Apr 24.
Zuccarino R, Prada V, Moroni I, Pagliano E, Foscan M, Robbiano G, Pisciotta C, Cornett K, Shy R, Schenone A, Pareyson D, Shy M, Burns J. Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale. J Peripher Nerv Syst. 2020 Jun;25(2):138-142. doi: 10.1111/jns.12383. Epub 2020 May 26.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4.
Saveri P, De Luca M, Nisi V, Pisciotta C, Romano R, Piscosquito G, Reilly MM, Polke JM, Cavallaro T, Fabrizi GM, Fossa P, Cichero E, Lombardi R, Lauria G, Magri S, Taroni F, Pareyson D, Bucci C. Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation. Cells. 2020 Apr 21;9(4):1028. doi: 10.3390/cells9041028.
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME. Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular Med. 2020 Mar;22(1):68-72. doi: 10.1007/s12017-019-08564-4. Epub 2019 Aug 29.
Rossor AM, Shy ME, Reilly MM. Are we prepared for clinical trials in Charcot-Marie-Tooth disease?. Brain Res. 2020 Feb 15;1729:146625. doi: 10.1016/j.brainres.2019.146625. Epub 2019 Dec 30.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
Bis-Brewer DM, Fazal S, Züchner S. Genetic modifiers and non-Mendelian aspects of CMT. Brain Res. 2020 Jan 1;1726:146459. doi: 10.1016/j.brainres.2019.146459. Epub 2019 Sep 13.
Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Prot2HG: a database of protein domains mapped to the human genome. Database (Oxford). 2020 Jan 1;2020:baz161. doi: 10.1093/database/baz161.
Wang H, Davison M, Wang K, Xia TH, Kramer M, Call K, Luo J, Wu X, Zuccarino R, Bacon C, Bai Y, Moran JJ, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Svaren J, Shy ME. Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A. Ann Clin Transl Neurol. 2020 Jan;7(1):69-82. doi: 10.1002/acn3.50965. Epub 2019 Dec 12.
Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. A recurrent GARS mutation causes distal hereditary motor neuropathy. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22.
Kapoor M, Foiani M, Heslegrave A, Zetterberg H, Lunn MP, Malaspina A, Gillmore JD, Rossor AM, Reilly MM. Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis. J Peripher Nerv Syst. 2019 Dec;24(4):314-319. doi: 10.1111/jns.12350. Epub 2019 Oct 14.
Lee DC, Dankwa L, Edmundson C, Cornblath DR, Scherer SS. Yield of next-generation neuropathy gene panels in axonal neuropathies. J Peripher Nerv Syst. 2019 Dec;24(4):324-329. doi: 10.1111/jns.12356. Epub 2019 Nov 19.
Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardini E, Currò R, Gastaldi M, Vegezzi E, Alfonsi E, Berardinelli A, Kouton L, Manso C, Giannotta C, Doneddu P, Dacci P, Piccolo L, Ruiz M, Salvalaggio A, De Michelis C, Spina E, Topa A, Bisogni G, Romano A, Mariotto S, Mataluni G, Cerri F, Stancanelli C, Sabatelli M, Schenone A, Marchioni E, Lauria G, Nobile-Orazio E, Devaux J, Franciotta D. Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype. Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan.
Pipis M, Rossor AM, Laura M, Reilly MM. Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 2019 Nov;15(11):644-656. doi: 10.1038/s41582-019-0254-5. Epub 2019 Oct 3.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
Laurá M, Pipis M, Rossor AM, Reilly MM. Charcot-Marie-Tooth disease and related disorders: an evolving landscape. Curr Opin Neurol. 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735.
Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP. Balance impairment in pediatric charcot-marie-tooth disease. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM. Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.
Smith GA, Lin TH, Sheehan AE, Van der Goes van Naters W, Neukomm LJ, Graves HK, Bis-Brewer DM, Züchner S, Freeman MR. Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation. Neuron. 2019 Jul 3;103(1):52-65.e6. doi: 10.1016/j.neuron.2019.04.017. Epub 2019 May 14.
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.
Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Zuchner S, Scherer SS. POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10.
Svaren J, Moran JJ, Wu X, Zuccarino R, Bacon C, Bai Y, Ramesh R, Gutmann L, Anderson DM, Pavelec D, Shy ME. Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies. Ann Neurol. 2019 Jun;85(6):887-898. doi: 10.1002/ana.25480. Epub 2019 Apr 22.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.
Bis-Brewer DM, Danzi MC, Wuchty S, Züchner S. A network biology approach to unraveling inherited axonopathies. Sci Rep. 2019 Feb 8;9(1):1692. doi: 10.1038/s41598-018-37119-z.
Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21.
Bardakjian T, Scherer SS. A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy. J Neuromuscul Dis. 2019;6(3):385-387. doi: 10.3233/JND-190400.
Kapoor M, Rossor AM, Laura M, Reilly MM. Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis. J Neuromuscul Dis. 2019;6(2):189-199. doi: 10.3233/JND-180371.
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280.
Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM. IGHMBP2 mutation associated with organ-specific autonomic dysfunction. Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.
Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17.
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.
Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN. The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19.
Davies JL, Engelstad JK Sr, E Gove L, Linbo LK, Carter RE, Lynch C, Staff NP, Klein CJ, Dyck PJB, Herrmann DN, Dyck PJ. Somatotopic heat pain thresholds and intraepidermal nerve fibers in health. Muscle Nerve. 2018 Oct;58(4):509-516. doi: 10.1002/mus.26128. Epub 2018 Apr 20.
Morrow JM, Evans MRB, Grider T, Sinclair CDJ, Thedens D, Shah S, Yousry TA, Hanna MG, Nopoulos P, Thornton JS, Shy ME, Reilly MM. Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. Neurology. 2018 Sep 18;91(12):e1125-e1129. doi: 10.1212/WNL.0000000000006214. Epub 2018 Aug 17.
Silwal A, Pitt M, Phadke R, Mankad K, Davison JE, Rossor A, DeVile C, Reilly MM, Manzur AY, Muntoni F, Munot P. Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy. Neuromuscul Disord. 2018 Sep;28(9):757-765. doi: 10.1016/j.nmd.2018.06.001. Epub 2018 Jun 12.
Johnson NE, Heatwole C, Creigh P, McDermott MP, Dilek N, Hung M, Bounsanga J, Tang W, Shy ME, Herrmann DN. The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. Ann Neurol. 2018 Aug;84(2):225-233. doi: 10.1002/ana.25282. Epub 2018 Aug 29.
Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Zuchner S, Kennerson ML, Burns J, Menezes MP. Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6.
Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME. Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.
Saghira C, Bis DM, Stanek D, Strickland A, Herrmann DN, Reilly MM, Scherer SS, Shy ME; Inherited Neuropathy Consortium, Zuchner S. Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Hum Mutat. 2018 May;39(5):635-642. doi: 10.1002/humu.23412. Epub 2018 Mar 14.
Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B, Siskind C, Day J, Yawn R, Feely S, Li Y, Yan Q, Shy M, Li J. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol. 2018 Apr;83(4):756-770. doi: 10.1002/ana.25198. Epub 2018 Mar 30.
Bai Y, Wu X, Brennan KM, Wang DS, D'Antonio M, Moran J, Svaren J, Shy ME. Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. Ann Clin Transl Neurol. 2018 Mar 10;5(4):445-455. doi: 10.1002/acn3.543. eCollection 2018 Apr.
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. PMID: 29499166; PMCID: PMC5985288.
Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369.
Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS. A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.
Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN. Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve. 2018 Mar;57(3):388-394. doi: 10.1002/mus.25742. Epub 2017 Jul 21.
Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat. 2018 Mar;39(3):415-432. doi: 10.1002/humu.23380. Epub 2017 Dec 26.
Pareyson D, Shy ME. Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease. Neurology. 2018 Feb 6;90(6):257-259. doi: 10.1212/WNL.0000000000004936. Epub 2018 Jan 10.
Sandelius Å, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, Reilly MM, Rossor AM. Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology. 2018 Feb 6;90(6):e518-e524. doi: 10.1212/WNL.0000000000004932. Epub 2018 Jan 10.
Laura M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium. Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.
Orengo JP, Khemani P, Day JW, Li J, Siskind CE. Charcot Marie Tooth disease type 4J with complex central nervous system features. Ann Clin Transl Neurol. 2018 Jan 22;5(2):222-225. doi: 10.1002/acn3.525. eCollection 2018 Feb.
Shy ME. Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. J Clin Invest. 2018 Jan 2;128(1):110-112. doi: 10.1172/JCI98617. Epub 2017 Dec 4.
Burnor E, Yang L, Zhou H, Patterson KR, Quinn C, Reilly MM, Rossor AM, Scherer SS, Lancaster E. Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies. Neurology. 2018 Jan 2;90(1):e31-e38. doi: 10.1212/WNL.0000000000004773. Epub 2017 Nov 29.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. PMID: 29126212; PMCID: PMC5841036.
Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM. A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.
Jerath NU, Shy ME. Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29.
Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.
Jerath NU, Shy ME. Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. J Clin Neurophysiol. 2017 Nov;34(6):508-511. doi: 10.1097/WNP.0000000000000415.
Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.
Kalmar B, Innes A, Wanisch K, Kolaszynska AK, Pandraud A, Kelly G, Abramov AY, Reilly MM, Schiavo G, Greensmith L. Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease. Hum Mol Genet. 2017 Sep 1;26(17):3313-3326. doi: 10.1093/hmg/ddx216.
Zis P, Reilly MM, Rao DG, Tomaselli P, Rossor AM, Hadjivassiliou M. A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2017 Sep;22(3):224-225. doi: 10.1111/jns.12222.
Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group. Natural history of Charcot-Marie-Tooth disease during childhood. Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.
Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.
Ramdharry GM, Pollard AJ, Grant R, Dewar EL, Laurá M, Moore SA, Hallsworth K, Ploetz T, Trenell MI, Reilly MM. A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects. Disabil Rehabil. 2017 Aug;39(17):1753-1758. doi: 10.1080/09638288.2016.1211180. Epub 2016 Aug 16.
Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathol Commun. 2017 Jul 14;5(1):55. doi: 10.1186/s40478-017-0457-1. PMID: 28709447; PMCID: PMC5513089.
Hainline C, Rizzo D, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. Enhancements to the RDCRN Contact Registry for the Inherited Neuropathies Consortium. Poster presented at Peripheral Nerve Society Annual Meeting. Jul. 8-12, 2017; Sitges, Spain.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13.
Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology. 2017 May 30;88(22):2132-2140. doi: 10.1212/WNL.0000000000003992. Epub 2017 May 3.
Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.
Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S. Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286. doi: 10.1002/mgg3.285. eCollection 2017 May.
Saporta MA, Shy ME. A human cellular model to study peripheral myelination and demyelinating neuropathies. Brain. 2017 Apr 1;140(4):856-859. doi: 10.1093/brain/awx048.
Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurol Genet. 2017 Mar 22;3(2):e144. doi: 10.1212/NXG.0000000000000144. eCollection 2017 Apr.
Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol. 2017 Mar 12;4(4):236-245. doi: 10.1002/acn3.395. eCollection 2017 Apr.
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.
Rossor AM, Morrow JM, Polke JM, Murphy SM, Houlden H; INC-RDCRC, Laura M, Manji H, Blake J, Reilly MM. Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. Neuromuscul Disord. 2017 Jan;27(1):50-56. doi: 10.1016/j.nmd.2016.10.001. Epub 2016 Oct 8.
Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. J Neuropathol Exp Neurol. 2016 Dec 1;75(12):1155-1159. doi: 10.1093/jnen/nlw093.
Hu B, Arpag S, Zuchner S, Li J. A novel missense mutation of CMT2P alters transcription machinery. Ann Neurol. 2016 Dec;80(6):834-845. doi: 10.1002/ana.24776. Epub 2016 Sep 27.
Shy M. LRSAM1 lessons. Ann Neurol. 2016 Dec;80(6):821-822. doi: 10.1002/ana.24817.
Manole A, Chelban V, Haridy NA, Hamed SA, Berardo A, Reilly MM, Houlden H. Severe axonal neuropathy is a late manifestation of SPG11. J Neurol. 2016 Nov;263(11):2278-2286. doi: 10.1007/s00415-016-8254-5. Epub 2016 Aug 20.
Horga A, Tomaselli PJ, Gonzalez MA, Laura M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Zuchner S, Reilly MM. SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14.
Jerath NU, Gutmann L, Reddy CG, Shy ME. Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings. Muscle Nerve. 2016 Oct;54(4):728-32. doi: 10.1002/mus.25077. Epub 2016 Jul 4.
Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D, Santoro L; CMT-TRIAAL and CMT-TRAUK Group. Nerve conduction velocity in CMT1A: what else can we tell?. Eur J Neurol. 2016 Oct;23(10):1566-71. doi: 10.1111/ene.13079. Epub 2016 Jul 14.
Rossor AM, Tomaselli PJ, Reilly MM. Recent advances in the genetic neuropathies. Curr Opin Neurol. 2016 Oct;29(5):537-48. doi: 10.1097/WCO.0000000000000373.
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML. Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.
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Lunn MP, Ellis L, Hadden RD, Rajabally YA, Winer JB, Reilly MM. A proposed dosing algorithm for the individualized dosing of human immunoglobulin in chronic inflammatory neuropathies. J Peripher Nerv Syst. 2016 Mar;21(1):33-7. doi: 10.1111/jns.12158.
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Morrow JM, Sinclair CD, Fischmann A, Machado PM, Reilly MM, Yousry TA, Thornton JS, Hanna MG. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. Lancet Neurol. 2016 Jan;15(1):65-77. doi: 10.1016/S1474-4422(15)00242-2. Epub 2015 Nov 6.
Schmidt WM, Rutledge SL, Schüle R, Mayerhofer B, Züchner S, Boltshauser E, Bittner RE. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. Am J Hum Genet. 2015 Dec 3;97(6):855-61. doi: 10.1016/j.ajhg.2015.10.011. Epub 2015 Nov 12.
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Rose KJ, Hiller CE, Mandarakas M, Raymond J, Refshauge K, Burns J. Correlates of functional ankle instability in children and adolescents with Charcot-Marie-Tooth disease. J Foot Ankle Res. 2015 Nov 5;8:61. doi: 10.1186/s13047-015-0118-1. eCollection 2015.
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Jerath NU, Grider T, Shy ME. Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). Case Rep Genet. 2015;2015:496053. doi: 10.1155/2015/496053. Epub 2015 Oct 12.
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Brennan KM, Bai Y, Shy ME. Demyelinating CMT--what's known, what's new and what's in store?. Neurosci Lett. 2015 Jun 2;596:14-26. doi: 10.1016/j.neulet.2015.01.059. Epub 2015 Jan 24.
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Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, Laurá M, Liu YT, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T. Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity. Neuromolecular Med. 2015 Mar;17(1):47-57. doi: 10.1007/s12017-014-8339-1. Epub 2015 Jan 8.
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Mead S, Reilly MM. A new prion disease: relationship with central and peripheral amyloidoses. Nature reviews Neurology. Feb 2015;11(2):90-97. PMID: 25623792.
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Arthur-Farraj PJ, Murphy SM, Laura M, Lunn MP, Manji H, Blake J, Ramdharry G, Fox Z, Reilly MM. Hand weakness in Charcot-Marie-Tooth disease 1X. Neuromuscul Disord. 2012 Jul;22(7):622-6. doi: 10.1016/j.nmd.2012.02.008. Epub 2012 Mar 28.
Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain. 2012 Jul;135(Pt 7):2032-47. doi: 10.1093/brain/aws140. Epub 2012 Jun 10.
Murphy SM, Ovens R, Polke J, Siskind CE, Laura M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM. X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6.
Scanlon C, Park K, Mapletoft D, Begg L, Burns J.. Interrater and intrarater reliability of photoplethysmography for measuring toe blood pressure and toe-brachial index in people with diabetes mellitus. J Foot Ankle Res. 2012 Jun 7;5:13. doi: 10.1186/1757-1146-5-13.
Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM. A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. J Peripher Nerv Syst. 2012 Jun;17(2):201-5. doi: 10.1111/j.1529-8027.2012.00400.x.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.
Rossor AM, Murphy S, Reilly MM. Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol. 2012 Jun;12(3):182-3. doi: 10.1136/practneurol-2011-000167.
Miller LJ, Patzko A, Lewis RA, Shy ME. Phenotypic presentation of the Ser63Del MPZ mutation. J Peripher Nerv Syst. 2012 Jun;17(2):197-200. doi: 10.1111/j.1529-8027.2012.00398.x.
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Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28.
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Blyton F, Chuter V, Burns J. Unknotting night-time muscle cramp: a survey of patient experience, help-seeking behaviour and perceived treatment effectiveness. J Foot Ankle Res. 2012 Mar 15;5:7. doi: 10.1186/1757-1146-5-7.
Morrow JM, D'Sa S, Page RA, Hilali MA, Lunn MP, Reilly MM. Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia. J Neurol. Mar 2012;259(3):571-573. PMID: 21887515.
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Murphy SM, Khan U, Alifrangis C, Hazell S, Hrouda D, Blake J, Ball J, Gabriel C, Markarian P, Rees J, Karim A, Seckl MJ, Lunn MP, Reilly MM. Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):232-3. doi: 10.1136/jnnp.2010.223271. Epub 2011 Jan 4.
Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneapolis, Minn). Feb 2012;18(1):39-59. PMID: 22810069.
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Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28.
Sinclair CD, Morrow JM, Miranda MA, Davagnanam I, Cowley PC, Mehta H, Hanna MG, Koltzenburg M, Yousry TA, Reilly MM, Thornton JS. Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. J Neurol Neurosurg Psychiatry. Jan 2012;83(1):29-32. PMID: 21613652.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25.
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Reilly MM, Shy ME, Muntoni F, Pareyson D. 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord. Dec 2010;20(12):839-846. PMID: 20850975.
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Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord. Apr 2009;19(4):264-269. PMID: 19272779.
Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, Croft GF, Saphier G, Leibel R, Goland R, Wichterle H, Henderson CE, Eggan K. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. Aug 29 2008;321(5893):1218-1221. PMID: 18669821.