282 results match your criteria Hereditary Neuropathies of the Charcot-Marie-Tooth Disease Type


A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.

Muscle Nerve 2019 Mar 28. Epub 2019 Mar 28.

Dartmouth Hitchcock Medical Center, Geisel School of Medicine at Dartmouth, Lebanon, New Hampshire, USA.

Introduction: Charcot-Marie-Tooth (CMT) phenotypes can be distinguished by electrophysiology and genetic analysis but few can be identified by their clinical characteristics. Distinctive phenotypes are useful in identifying affected individuals and providing additional clues about the mechanism of the neuropathy. Cranial neuropathies are uncommon features of CMT, and few reports of familial hemifacial spasm (HFS) and trigeminal neuralgia (TN) have been published. Read More

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http://dx.doi.org/10.1002/mus.26478DOI Listing
March 2019
5 Reads

Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.

Acta Biomed 2019 Jan 24;90(1):104-107. Epub 2019 Jan 24.

Department of Pediatrics, Child Neurology Unit, Santa Maria Nuova Hospital, IRCCS, viale Risorgimento 80, 42123 Reggio Emilia, Italy. Department of Pediatrics, Pediatric Neurophysiology Laboratory, Santa Maria Nuova Hospital, IRCCS, viale Risorgimento 80, 42123 Reggio Emilia, Italy..

Background And Aim Of The Work: Childhood-onset peripheral neuropathies are often of genetic origin. Charcot-Marie-Tooth (CMT), is considered the commonest neuromuscular disorder. Due to its high clinical heterogeneity, especially in the pediatric age, the co-existence of central and peripheral symptoms and signs does not necessarily rule out a diagnosis of hereditary peripheral neuropathy. Read More

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http://dx.doi.org/10.23750/abm.v90i1.6951DOI Listing
January 2019
3 Reads

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.

Neurol Sci 2019 Apr 1;40(4):661-669. Epub 2019 Mar 1.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Recent advances in pathophysiological and genetic mechanisms of some neuromuscular diseases and a rapid progress in new pharmacological technologies led to an accelerated development of innovative treatments, generating an unexpected therapeutic revolution. In part 1, we report already commercially available drugs, just approved drugs and new therapeutic promises in the treatment of peripheral neuropathies. Hereditary transthyretin amyloidosis (hATTR) is a devastating disease due to amyloid accumulation in peripheral nerves, heart and autonomic system. Read More

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http://dx.doi.org/10.1007/s10072-019-03778-7DOI Listing
April 2019
6 Reads

Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.

Mol Neurobiol 2019 Mar 4. Epub 2019 Mar 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

Mitofusin 2 (MFN2) is a protein of the mitochondrial outer membrane that belongs to a family of highly conserved dynamin-related GTPases. It is implicated in several intracellular pathways; however, its main role is the regulation of mitochondrial dynamics, in particular mitochondrial fusion. Mutations in MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide spectrum of clinical features, primarily a motor sensory neuropathy. Read More

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http://dx.doi.org/10.1007/s12035-019-1533-2DOI Listing
March 2019
4 Reads

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying mutations.

J Med Genet 2018 Dec 10;55(12):814-823. Epub 2018 Nov 10.

Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.

Background: Mutations in the metalloendopeptidase () gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in . Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105650DOI Listing
December 2018
10 Reads
6.340 Impact Factor

CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid.

Neurosci Res 2019 Feb 24;139:69-78. Epub 2018 Sep 24.

Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo, 192-0392, Japan; Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo, 157-8535, Japan. Electronic address:

Charcot-Marie-Tooth (CMT) disease is composed of a heterogeneous group of hereditary peripheral neuropathies. The peripheral nervous system primarily comprises two types of cells: neuronal cells and myelinating glial Schwann cells. CMT2 N is an autosomal dominant disease and its responsible gene encodes alanyl-tRNA synthetase (AARS), which is a family of cytoplasmic aminoacyl-tRNA synthetases. Read More

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http://dx.doi.org/10.1016/j.neures.2018.09.016DOI Listing
February 2019
52 Reads

A Review of Copy Number Variants in Inherited Neuropathies.

Curr Genomics 2018 Sep;19(6):412-419

Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.

The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important cause of genetic differences among healthy individuals and also as disease-susceptibility and/or disease-causing factors. Structural genomic variations due to unbalanced chromosomal rearrangements are known as Copy-Number Variants (CNVs) and these include variably sized deletions, duplications, triplications and translocations. CNVs can significantly contribute to human diseases and rearrangements in several dosage-sensitive genes have been identified as an important causative mechanism in the molecular aetiology of Charcot-Marie-Tooth (CMT) disease and of several CMT-related disorders, a group of inherited neuropathies with a broad range of clinical phenotypes, inheritance patterns and causative genes. Read More

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http://www.eurekaselect.com/160880/article
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http://dx.doi.org/10.2174/1389202919666180330153316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128387PMC
September 2018
22 Reads

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.

Neurogenetics 2018 Dec 24;19(4):215-225. Epub 2018 Jul 24.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2). Read More

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http://dx.doi.org/10.1007/s10048-018-0555-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280876PMC
December 2018
7 Reads

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Mol Genet Genomic Med 2018 05 23;6(3):422-433. Epub 2018 Mar 23.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

Inherited peripheral neuropathies (IPNs) are a clinically and genetically heterogeneous group of diseases affecting the motor and sensory peripheral nerves. IPNs have benefited from gene discovery and genetic diagnosis using next-generation sequencing with over 80 causative genes available for testing. Despite this success, up to 50% of cases remain genetically unsolved. Read More

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http://dx.doi.org/10.1002/mgg3.390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014456PMC
May 2018
2 Reads

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

J Peripher Nerv Syst 2018 Mar 14;23(1):40-48. Epub 2018 Feb 14.

Department of Neurology and Geriatrics, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole-exome sequencing. Read More

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http://dx.doi.org/10.1111/jns.12252DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873406PMC
March 2018
12 Reads

Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients.

Am J Pathol 2018 03 12;188(3):728-738. Epub 2017 Dec 12.

Department of Neuroscience, College of Medicine, University of Florida, Gainesville, Florida; Department of Neurology, College of Medicine, University of Florida, Gainesville, Florida. Electronic address:

A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Although studies from animal models have led to better understanding of the pathobiology of these neuropathies, there continues to be a gap in the translation of findings from rodents to humans. Because PMP22 was originally identified in fibroblasts as growth arrest specific gene 3 (gas3) and is expressed broadly in the body, it was tested whether skin cells from neuropathic patients would display the cellular pathology observed in Schwann cells from rodent models. Read More

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http://dx.doi.org/10.1016/j.ajpath.2017.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842032PMC
March 2018
11 Reads

Locomotor and skeletal muscle abnormalities in trembler J neuropathic mice.

Muscle Nerve 2018 04 24;57(4):664-671. Epub 2017 Oct 24.

Department of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, 1149 Newell Drive, Box 100244 Gainesville, Florida, 32610-0244, USA.

Introduction: Patients with hereditary peripheral neuropathies exhibit characteristic deformities of the hands and feet and have difficulty ambulating. To examine to what extent neuropathic animals recapitulate these deficits, we studied trembler J (TrJ) mice, which model early-onset demyelinating neuropathy.

Methods: A cohort of 4-month-old female wild type and neuropathic mice were evaluated for locomotor measurements, neuromuscular function, and skeletal muscle proteolysis and morphometry. Read More

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http://dx.doi.org/10.1002/mus.25987DOI Listing
April 2018
6 Reads

Different nerve ultrasound patterns in charcot-marie-tooth types and hereditary neuropathy with liability to pressure palsies.

Muscle Nerve 2018 Jan 24;57(1):E18-E23. Epub 2017 Aug 24.

Department of Neurosciences, University of Padova, Padova, Italy.

Introduction: Nerve ultrasound in Charcot-Marie-Tooth (CMT) disease has focused mostly on the upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages, and nerves.

Methods: Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial, and sural nerves bilaterally. Read More

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http://doi.wiley.com/10.1002/mus.25766
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http://dx.doi.org/10.1002/mus.25766DOI Listing
January 2018
51 Reads

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 09;26(17):3313-3326

Sobell Department of Motor Neuroscience and Movement Disorders.

Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been implicated in the disease. In this study, we conducted analysis of bidirectional movements of mitochondria in primary motor neuron axons expressing wild type and mutant Hsp27. Read More

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http://dx.doi.org/10.1093/hmg/ddx216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808738PMC
September 2017
27 Reads

Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A).

Clin Neurol Neurosurg 2017 Apr 13;155:20-21. Epub 2017 Feb 13.

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle (Saale), Germany. Electronic address:

Background: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. Read More

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http://dx.doi.org/10.1016/j.clineuro.2017.02.004DOI Listing
April 2017
6 Reads

Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.

Eur J Neurol 2017 03;24(3):530-538

Centre de Référence des Maladies Neuromusculaires Paris Est, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France.

Background And Purpose: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Methods: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey. Read More

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http://doi.wiley.com/10.1111/ene.13239
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http://dx.doi.org/10.1111/ene.13239DOI Listing
March 2017
24 Reads

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.

Hum Mol Genet 2017 02;26(3):611-623

Department of Biomedical Sciences, University of Padova, Via U. Bassi 58/b 35131 Padova, Italy.

HSJ1 (DNAJB2), a member of the DNAJ family of molecular chaperones, is a key player in neuronal proteostasis maintenance. It binds ubiquitylated proteins through its Ubiquitin Interacting Motifs (UIMs) and facilitates their delivery to the proteasome for degradation. Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. Read More

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http://dx.doi.org/10.1093/hmg/ddw420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409130PMC
February 2017
5 Reads

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.

J Neuromuscul Dis 2016 05;3(2):183-200

Peripheral Neuropathy Group, VIB Department of Molecular Genetics and Institute Born Bunge, University of Antwerp, Antwerpen, Belgium.

Background: Charcot-Marie-Tooth (CMT) and associated neuropathies, the most common inherited diseases of the peripheral nervous system, remain so far incurable. Three existing murine models of Charcot-Marie-Tooth type 2F (CMT2F) and/or distal hereditary motor neuropathy type IIb (dHMNIIb), caused by mutations in the small heat shock protein B1 gene (HSPB1/HSP27), partially recapitulate the hallmarks of peripheral neuropathy. Because these models overexpress the HSPB1 mutant proteins they differ from the patients' situation. Read More

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http://dx.doi.org/10.3233/JND-150144DOI Listing
May 2016
17 Reads

Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.

EMBO Mol Med 2016 12 1;8(12):1438-1454. Epub 2016 Dec 1.

INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.

Charcot-Marie-Tooth (CMT) neuropathies are highly heterogeneous disorders caused by mutations in more than 70 genes, with no available treatment. Thus, it is difficult to envisage a single suitable treatment for all pathogenetic mechanisms. Axonal Neuregulin 1 (Nrg1) type III drives Schwann cell myelination and determines myelin thickness by ErbB2/B3-PI3K-Akt signaling pathway activation. Read More

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http://dx.doi.org/10.15252/emmm.201606349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167133PMC
December 2016
13 Reads

HSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration.

Exp Neurol 2016 Dec 24;286:40-49. Epub 2016 Aug 24.

Institute of Anatomy and Cell Biology, Department of Molecular Embryology, Albertstraße 17, 79104 Freiburg, Germany. Electronic address:

The human small heat shock proteins (HSPBs) form a family of molecular chaperones comprising ten members (HSPB1-HSPB10), whose functions span from protein quality control to cytoskeletal dynamics and cell death control. Mutations in HSPBs can lead to human disease and particularly point mutations in HSPB1 and HSPB8 are known to lead to peripheral neuropathies. Recently, a missense mutation (R7S) in yet another member of this family, HSPB3, was found to cause an axonal motor neuropathy (distal hereditary motor neuropathy type 2C, dHMN2C). Read More

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http://dx.doi.org/10.1016/j.expneurol.2016.08.014DOI Listing
December 2016
14 Reads

Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

Cerebellum 2017 04;16(2):599-601

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot-Marie-Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich's ataxia (FRDA). We demonstrate that late-onset Friedreich's ataxia (LOFA) may be a CMT mimicker. Read More

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http://dx.doi.org/10.1007/s12311-016-0822-9DOI Listing
April 2017
13 Reads

Nerve conduction velocity in CMT1A: what else can we tell?

Eur J Neurol 2016 10 14;23(10):1566-71. Epub 2016 Jul 14.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Naples, Italy.

Background And Purpose: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A.

Methods: Baseline electrophysiological data from 271 patients were analysed. Read More

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http://dx.doi.org/10.1111/ene.13079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603914PMC
October 2016
4 Reads

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

J Peripher Nerv Syst 2016 09;21(3):142-9

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive (AR) demyelinating neuropathy associated to SH3TC2 mutations, characterized by early onset, spine deformities, and cranial nerve involvement. We screened 43 CMT4 patients (36 index cases) with AR inheritance, demyelinating nerve conductions, and negative testing for PMP22 duplication, GJB1 and MPZ mutations, for SH3TC2 mutations. Twelve patients (11 index cases) had CMT4C as they carried homozygous or compound heterozygous mutations in SH3TC2. Read More

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http://dx.doi.org/10.1111/jns.12175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592964PMC
September 2016
11 Reads

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.

Clin Neurol Neurosurg 2016 May 9;144:67-71. Epub 2016 Mar 9.

Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; Centro Clinico NEMO, Rome, Italy.

Objectives: CMT is a group of heterogeneous motor and sensory neuropathies divided into demyelinating (CMT1) and axonal forms (CMT2). Distal Hereditary Motor Neuropathy (dHMN) is a motor neuropathy/neuronopathy which resembles CMT. Final genetic diagnosis is poor in CMT2 and in dHMN when compared with CMT1. Read More

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http://dx.doi.org/10.1016/j.clineuro.2016.03.007DOI Listing
May 2016
7 Reads

Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.

J Neuropathol Exp Neurol 2016 Apr 25;75(4):334-46. Epub 2016 Feb 25.

From the Departments of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, Nevada.

Mutations in peripheral myelin protein 22 (PMP22) result in the most common form of Charcot-Marie-Tooth (CMT) disease, CMT1A. This hereditary peripheral neuropathy is characterized by dysmyelination of peripheral nerves, reduced nerve conduction velocity, and muscle weakness. APMP22 point mutation in L16P (leucine 16 to proline) underlies a form of human CMT1A as well as the Trembler-J mouse model of CMT1A. Read More

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http://dx.doi.org/10.1093/jnen/nlw004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845671PMC
April 2016
8 Reads

Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.

PLoS One 2016 27;11(1):e0147677. Epub 2016 Jan 27.

Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.

Background: A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan.

Methodology And Principal Findings: Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0147677PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729478PMC
July 2016
20 Reads

Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family.

Neural Regen Res 2015 Oct;10(10):1696-9

Department of Neurology, Peking University Third Hospital, Beijing, China.

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. Read More

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http://dx.doi.org/10.4103/1673-5374.167771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660768PMC
October 2015
3 Reads

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

Clin Genet 2016 08 16;90(2):127-33. Epub 2016 Feb 16.

Northcott Neuroscience Laboratory, ANZAC Research Institute, and Sydney Medical School, University of Sydney, Sydney, Australia.

The cytoplasmic dynein-dynactin genes are attractive candidates for neurodegenerative disorders given their functional role in retrograde transport along neurons. The cytoplasmic dynein heavy chain (DYNC1H1) gene has been implicated in various neurodegenerative disorders, and dynactin 1 (DCTN1) genes have been implicated in a wide spectrum of disorders including motor neuron disease, Parkinson's disease, spinobulbar muscular atrophy and hereditary spastic paraplegia. However, the involvement of other dynactin genes with inherited peripheral neuropathies (IPN) namely, hereditary sensory neuropathy, hereditary motor neuropathy and Charcot-Marie-Tooth disease is under reported. Read More

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http://dx.doi.org/10.1111/cge.12712DOI Listing
August 2016
3 Reads

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Brain 2016 Jan 10;139(Pt 1):73-85. Epub 2015 Nov 10.

1 Laboratorio di Neurogenetica, CERC - IRCCS Santa Lucia, Rome, Italy 2 Dipartimento di Medicina dei Sistemi, Università di Roma "Tor Vergata", Rome, Italy

Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but much of the genetic basis of the disease is still unexplained. Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for ∼ 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. Read More

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http://brain.oxfordjournals.org/content/brain/early/2015/11/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839554PMC
January 2016
26 Reads

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

Nature 2015 Oct 21;526(7575):710-4. Epub 2015 Oct 21.

Departments of Chemical Physiology and Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California 92037, USA.

Selective neuronal loss is a hallmark of neurodegenerative diseases, which, counterintuitively, are often caused by mutations in widely expressed genes. Charcot-Marie-Tooth (CMT) diseases are the most common hereditary peripheral neuropathies, for which there are no effective therapies. A subtype of these diseases--CMT type 2D (CMT2D)--is caused by dominant mutations in GARS, encoding the ubiquitously expressed enzyme glycyl-transfer RNA (tRNA) synthetase (GlyRS). Read More

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http://dx.doi.org/10.1038/nature15510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754353PMC
October 2015
28 Reads
28 Citations
42.351 Impact Factor

Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.

Clin Chem Lab Med 2016 May;54(5):773-80

Background: Charcot-Marie-Tooth type 1A (CMT1A) is the most common type of hereditary motor and sensory neuropathies (HMSN), caused by the duplication of the 17p11.2 region that includes the PMP22 gene. Reciprocal deletion of the same region is the main cause of hereditary neuropathy with liability to pressure palsies (HNPP). Read More

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http://dx.doi.org/10.1515/cclm-2015-0602DOI Listing
May 2016
34 Reads

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Neuromuscul Disord 2015 Oct 29;25(10):800-1. Epub 2015 Jul 29.

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy. Electronic address:

Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles. Charcot-Marie-Tooth disease type 1A is an autosomal dominant polyneuropathy due to peripheral myelin protein 22 gene duplication and characterized by slowly progressive distal limb muscle weakness, atrophy and sensory loss with foot deformities. Here we report the co-occurrence of both neuromuscular genetic diseases in the same male patient. Read More

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http://dx.doi.org/10.1016/j.nmd.2015.07.015DOI Listing
October 2015
13 Reads

First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities.

Neurol India 2015 May-Jun;63(3):395-8

Department of Pediatric Neurology, Deenanath Mangeshkar Hospital, Pune, Maharashtra, India.

Charcot Marie Tooth (CMT) disease is a group of hereditary motor sensory neuropathies with significant genetic heterogeneity. This disorder has been scarcely reported in the Indian literature. Here, we report a case of the rare but relatively more severe autosomal recessive CMT type 4C disease with a few features that are distinct from its regular presentation. Read More

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http://dx.doi.org/10.4103/0028-3886.158222DOI Listing
June 2015
6 Reads

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth disease.

Neuromuscul Disord 2015 Aug 11;25(8):640-5. Epub 2015 May 11.

Biomedical Technology Department, IRCCS Foundation Don Gnocchi Onlus, Milan, Italy.

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. CMT1 is primarily demyelinating, CMT2 is primarily axonal, and CMTX1 is characterized by both axonal and demyelinating abnormalities. We investigated the role of somatosensory and muscular deficits on quiet standing and postural stabilization in patients affected by different forms of CMT, comparing their performances with those of healthy subjects. Read More

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http://dx.doi.org/10.1016/j.nmd.2015.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553554PMC
August 2015
9 Reads

Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India.

Ann Indian Acad Neurol 2015 Apr-Jun;18(2):171-80

Department of Ear, Nose and Throat, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

Aims: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center.

Settings And Design: A prospective clinical study was conducted on all patients diagnosed with auditory neuropathy spectrum disorder in the ear, nose, and throat (ENT) and neurology departments during a 17-month period. Patients with neurological abnormalities on history and examination were further assessed by a neurologist to determine the type of disorder present. Read More

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http://dx.doi.org/10.4103/0972-2327.150578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445192PMC
May 2015
11 Reads

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.

Hum Mol Genet 2015 Aug 13;24(15):4397-406. Epub 2015 May 13.

Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK, The Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK,

Charcot-Marie-Tooth (CMT) neuropathies are collectively the most common hereditary neurological condition and a major health burden for society. Dominant mutations in the gene GARS, encoding the ubiquitous enzyme, glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and lead to CMT disease type 2D. This genetic disorder exemplifies a recurring motif in neurodegeneration, whereby mutations in essential, widely expressed genes have selective deleterious consequences for the nervous system. Read More

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http://dx.doi.org/10.1093/hmg/ddv176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492401PMC
August 2015
40 Reads

Acute optic neuropathy associated with a novel MFN2 mutation.

J Neurol 2015 Jul 10;262(7):1678-80. Epub 2015 May 10.

Dept. Scienze e Biotecnologie Medico-Chirurgiche, Rome Sapienza University Polo Pontino, Rome, Italy,

Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot-Marie-Tooth (CMT). In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated with optic neuropathy. Most reports of HMSN VI presented with a sub-acute form of optic neuropathy. Read More

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http://dx.doi.org/10.1007/s00415-015-7756-xDOI Listing
July 2015
7 Reads

Phenotypic variability of TRPV4 related neuropathies.

Neuromuscul Disord 2015 Jun 18;25(6):516-21. Epub 2015 Mar 18.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot-Marie-Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in two unrelated patients with two novel heterozygous missense mutations in the TRPV4 gene. Read More

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http://dx.doi.org/10.1016/j.nmd.2015.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454778PMC
June 2015
23 Reads

Mitochondrial dynamics and inherited peripheral nerve diseases.

Neurosci Lett 2015 Jun 3;596:66-77. Epub 2015 Apr 3.

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

Peripheral nerves have peculiar energetic requirements because of considerable length of axons and therefore correct mitochondria functioning and distribution along nerves is fundamental. Mitochondrial dynamics refers to the continuous change in size, shape, and position of mitochondria within cells. Abnormalities of mitochondrial dynamics produced by mutations in proteins involved in mitochondrial fusion (mitofusin-2, MFN2), fission (ganglioside-induced differentiation-associated protein-1, GDAP1), and mitochondrial axonal transport usually present with a Charcot-Marie-Tooth disease (CMT) phenotype. Read More

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http://dx.doi.org/10.1016/j.neulet.2015.04.001DOI Listing
June 2015
9 Reads

Charcot-Marie-Tooth type 1A disease from patient to laboratory.

J Pak Med Assoc 2015 Feb;65(2):206-12

Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease was discovered by three scientists several years ago. Read More

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February 2015
38 Reads

PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.

Muscle Nerve 2015 Jul 31;52(1):69-75. Epub 2015 Mar 31.

Department of Neurology, Third Xiangya Hospital, Central South University, Changsha, 410013, Hunan Province, People's Republic of China.

Introduction: Most cases of Charcot-Marie-Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E).

Methods: Single-nucleotide polymorphism (SNP) arrays were used to study PMP22 mutations based on the results of multiplex ligation-dependent probe amplification (MLPA) and polymerase chain reaction-restriction fragment length polymorphism methods in 77 Chinese Han families with CMT1. PMP22 sequencing was performed in MLPA-negative probands. Read More

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http://dx.doi.org/10.1002/mus.24550DOI Listing
July 2015
14 Reads

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Pediatr Neurol 2015 Feb 5;52(2):239-44. Epub 2014 Oct 5.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC; Department of Neurology and Neurological Sciences, Stanford University Medical Center, Palo Alto, California. Electronic address:

Background: Molecular diagnosis of the distal spinal muscular atrophies or distal hereditary motor neuropathies remains challenging because of clinical and genetic heterogeneity. Next generation sequencing offers potential for identifying de novo mutations of causative genes in isolated cases.

Patient Description: We present a 3. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351714PMC
February 2015
11 Reads

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Neurology 2014 Nov 1;83(19):1726-32. Epub 2014 Oct 1.

From the Department of Sleep Medicine and Neuromuscular Disorders (B.G., A.S., D.R., H.H., P.Y.), University of Muenster, Germany; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; Institute of Human Genetics (T.S.), Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg; Friedrich Baur Institute (M.Z., J.S.), Department of Neurology, Ludwig Maximilians University Munich; and Institute of Human Genetics (S.R.-S.), RWTH Aachen University, Germany.

Objectives: To determine the nature and frequency of HSJ1 mutations in patients with hereditary motor and hereditary motor and sensory neuropathies.

Methods: Patients were screened for mutations by genome-wide or targeted linkage and homozygosity studies, whole-exome sequencing, and Sanger sequencing. RNA and protein studies of skin fibroblasts were used for functional characterization. Read More

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http://dx.doi.org/10.1212/WNL.0000000000000966DOI Listing
November 2014
13 Reads

Characterization of human small heat shock protein HspB1 that carries C-terminal domain mutations associated with hereditary motor neuron diseases.

Biochim Biophys Acta 2014 Dec 16;1844(12):2116-26. Epub 2014 Sep 16.

Department of Biochemistry, School of Biology, Moscow State University, Moscow 119991, Russian Federation. Electronic address:

Physico-chemical properties of four mutants (T164A, T180I, P182S and R188W) of human small heat shock protein HspB1 (Hsp27) associated with neurodegenerative diseases were analyzed by means of fluorescence spectroscopy, dynamic light scattering, size-exclusion chromatography and measurement of chaperone-like activity. Mutation T164A was accompanied by destabilization of the quaternary structure and decrease of thermal stability without any significant changes of chaperone-like activity. Mutations T180I and P182S are adjacent or within the conserved C-terminal motif IPI/V. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15709639140022
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http://dx.doi.org/10.1016/j.bbapap.2014.09.005DOI Listing
December 2014
9 Reads

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Brain 2014 Nov 14;137(Pt 11):2897-902. Epub 2014 Aug 14.

2 Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA

Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral sclerosis. We identified a novel VCP mutation (p.Glu185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family. Read More

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https://brain.oxfordjournals.org/content/brain/137/11/2897.f
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208462PMC
November 2014
12 Reads

Natural history and biomarkers in hereditary sensory neuropathy type 1.

Muscle Nerve 2015 Apr 11;51(4):489-95. Epub 2015 Feb 11.

Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts, 02114, USA.

Introduction: Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is most commonly caused by missense mutations in SPTLC1. In this study we mapped symptom progression and compared the utility of outcomes.

Methods: We administered retrospective surveys of symptoms and analyzed results of nerve conduction, autonomic function testing (AFT), and PGP9. Read More

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http://doi.wiley.com/10.1002/mus.24336
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http://dx.doi.org/10.1002/mus.24336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484799PMC
April 2015
4 Reads

[Research progress in the mouse models of Charcot-Marie-Tooth disease type 2 (CMT2)].

Yi Chuan 2014 Jan;36(1):21-9

Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

Charcot-Marie-Tooth disease (CMT) is a kind of common hereditary motor and sensory neuropathies with a global prevalence of about 1 in 2500. Clinically, CMT can be divided into two main types: a demyelinating type (CMT1, CMT3, CMT4 and CMTX1) and an axonal type (CMT2). Up to now, about 17 unique genes related to CMT2 have been mapped and cloned. Read More

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January 2014
36 Reads

Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.

Neuromuscul Disord 2014 Jun 13;24(6):524-8. Epub 2014 Apr 13.

Centre de référence «neuropathies périphériques rares», service et laboratoire de Neurologie, CHU Limoges, France.

Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1. Read More

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http://dx.doi.org/10.1016/j.nmd.2014.03.014DOI Listing
June 2014
12 Reads

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Neurology 2014 May 30;82(21):1919-26. Epub 2014 Apr 30.

From the Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Centre de Référence Maladies Neuromusculaires Paris-Est (O.D., P.L., B.E., T.S.), APHP, Institut de Myologie, Paris; Département de Radiologie (P.C.), Hôpital de la Pitié-Salpêtrière, Paris; APHP (R.-Y.C.), HU PIFO, Service d'imagerie médicale, CIC-IT Handicap, Hôpital Poincaré, Garches; Département de Pédiatrie (P.S.), CHU de Reims; Centre de Référence Maladies Neuromusculaires Nantes-Angers (Y.P.), CHU de Nantes; Département de Neurologie (F.C.), CHU de Caen; EA 4271 GAD (C.T.-R.), IFR Santé STIC, Université de Bourgogne, Dijon; Centre de Référence (Anomalies de Développement et Syndromes Malformatifs) (C.T.-R.), CHU, Dijon; Centre de Biologie et de Pathologie Est (P.L.), Hospices Civils de Lyon, Bron, France.

Objective: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies.

Methods: We screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with congenital spinal muscular atrophy and arthrogryposis, 13 with CMT2, and 8 with scapuloperoneal spinal muscular atrophy, presented with additional vocal cord paralysis and/or skeletal dysplasia. Read More

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http://www.neurology.org/content/82/21/1919.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000045
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http://dx.doi.org/10.1212/WNL.0000000000000450DOI Listing
May 2014
8 Reads

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Orphanet J Rare Dis 2014 Mar 19;9:38. Epub 2014 Mar 19.

Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.

PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. Read More

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http://dx.doi.org/10.1186/1750-1172-9-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994927PMC
March 2014
19 Reads