4,615 results match your criteria Charcot-Marie-Tooth Disease


Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.

Orphanet J Rare Dis 2019 Feb 14;14(1):43. Epub 2019 Feb 14.

Department of Neurology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing, 100034, China.

Background: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the clinical and genetic features of sarcoglycanopathies in Chinese patients is limited. The aims of this study were to investigate in detail the clinical manifestations, sarcoglycan expression, and gene mutations in Chinese patients with sarcoglycanopathies and to identify possible correlations between them. Read More

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http://dx.doi.org/10.1186/s13023-019-1021-9DOI Listing
February 2019

Cerebral hypomyelination associated with biallelic variants of FIG4.

Hum Mutat 2019 Feb 10. Epub 2019 Feb 10.

Department of Human Genetics, University of Michigan, Ann Arbor MI, USA.

The lipid phosphatase gene FIG4 is responsible for Yunis-Varón Syndrome and Charcot-Marie-Tooth Disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of CNS white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Affected individuals inherited biallelic FIG4 variants from heterozygous parents. Read More

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http://doi.wiley.com/10.1002/humu.23720
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http://dx.doi.org/10.1002/humu.23720DOI Listing
February 2019
1 Read

A network biology approach to unraveling inherited axonopathies.

Sci Rep 2019 Feb 8;9(1):1692. Epub 2019 Feb 8.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Inherited axonopathies represent a spectrum of disorders unified by the common pathological mechanism of length-dependent axonal degeneration. Progressive axonal degeneration can lead to both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neurons: peripheral motor and sensory nerves or central nervous system axons of the corticospinal tract and dorsal columns, respectively. Inherited axonopathies display an extreme degree of genetic heterogeneity of Mendelian high-penetrance genes. Read More

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http://dx.doi.org/10.1038/s41598-018-37119-zDOI Listing
February 2019
1 Read

A network of chaperones prevents and detects failures in membrane protein lipid bilayer integration.

Nat Commun 2019 Feb 8;10(1):672. Epub 2019 Feb 8.

Center for Integrated Protein Science at the Department of Chemistry, Technical University of Munich, Lichtenbergstr. 4, 85748, Garching, Germany.

A fundamental step in membrane protein biogenesis is their integration into the lipid bilayer with a defined orientation of each transmembrane segment. Despite this, it remains unclear how cells detect and handle failures in this process. Here we show that single point mutations in the membrane protein connexin 32 (Cx32), which cause Charcot-Marie-Tooth disease, can cause failures in membrane integration. Read More

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http://dx.doi.org/10.1038/s41467-019-08632-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368539PMC
February 2019

Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR.

PLoS One 2019 6;14(2):e0211814. Epub 2019 Feb 6.

Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

CMT is the most common hereditary neuromuscular disorder of the peripheral nervous system with a prevalence of 1/2500 individuals and it is caused by mutations in more than 80 genes. LRSAM1, a RING finger ubiquitin ligase also known as TSG101-associated ligase (TAL), has been associated with Charcot-Marie-Tooth disease type 2P (CMT2P) and to date eight causative mutations have been identified. Little is currently known on the pathogenetic mechanisms that lead to the disease. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211814PLOS
February 2019

TRIM2, a novel member of the antiviral family, limits New World arenavirus entry.

PLoS Biol 2019 Feb 6;17(2):e3000137. Epub 2019 Feb 6.

Department of Microbiology and Immunology, UIC College of Medicine, Chicago, Illinois, United States of America.

Tripartite motif (TRIM) proteins belong to a large family with many roles in host biology, including restricting virus infection. Here, we found that TRIM2, which has been implicated in cases of Charcot-Marie-Tooth disease (CMTD) in humans, acts by blocking hemorrhagic fever New World arenavirus (NWA) entry into cells. We show that Trim2-knockout mice, as well as primary fibroblasts from a CMTD patient with mutations in TRIM2, are more highly infected by the NWAs Junín and Tacaribe virus than wild-type mice or cells are. Read More

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http://dx.doi.org/10.1371/journal.pbio.3000137DOI Listing
February 2019
1 Read

Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A.

Ann Neurol 2019 Jan 31. Epub 2019 Jan 31.

Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, 33136, USA.

Objective: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot-Marie-Tooth disease type 1A (CMT1A). To address this question the Inherited Neuropathy Consortium collected a large standardized sample of such rare CMT1A patients over a period of eight years. CMT1A is caused in most patients by a uniformly sized 1. Read More

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http://doi.wiley.com/10.1002/ana.25426
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http://dx.doi.org/10.1002/ana.25426DOI Listing
January 2019
2 Reads
9.977 Impact Factor

[Analysis of gene mutation in a pedigree with autosomal dominant Charcot-Marie-Tooth disease].

Nan Fang Yi Ke Da Xue Xue Bao 2019 Jan;39(1):63-68

Department of Neurology, Third Affiliated Hospital of Southern Medical University, Guangzhou 510630, China.

Objective: To investigate the molecular genetic mechanism of Charcot- Marie-Tooth (CMT) disease in a pedigree.

Methods: Genomic DNA was extracted from the peripheral blood of the family members of a pedigree with autosomal dominant CMT disease, and 65 candidate genes of the proband were screened using target exon capture and the next generation sequencing, and the suspicious genes were verified using Sanger sequencing. PolyPhen-2, PROVEAN and SIFT software were used to predict the function of the mutant genes, and PyMOL-1 software was used to simulate the mutant protein structure. Read More

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http://dx.doi.org/10.12122/j.issn.1673-4254.2019.01.10DOI Listing
January 2019
2 Reads

Replication studies of MIR149 association in Charcot-Marie-Tooth disease type 1A in a European population.

Neuromuscul Disord 2018 Dec 28. Epub 2018 Dec 28.

Department of Biological Sciences, Kongju National University, Gongju, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.12.013DOI Listing
December 2018

A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.

J Peripher Nerv Syst 2019 Jan 24. Epub 2019 Jan 24.

Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.

Heterozygous mutations in the inverted formin-2 (INF2) gene provoke focal segmental glomerulosclerosis (FSGS) and intermediate Charcot-Marie-Tooth (CMT) disease with FSGS. Here, we report four patients from a three-generation family with a new cryptic splicing INF2 mutation causing autosomal dominant intermediate CMT with minimal glomerular dysfunction. Three males and one female with a mean age of 51 years (26-87) presented with a slowly progressive sensorimotor polyneuropathy, pes cavus, and kyphoscoliosis. Read More

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http://doi.wiley.com/10.1111/jns.12308
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http://dx.doi.org/10.1111/jns.12308DOI Listing
January 2019
5 Reads

The histone deacetylase class I, II inhibitor trichostatin A delays peripheral neurodegeneration.

J Mol Histol 2019 Jan 22. Epub 2019 Jan 22.

Department of Otorhinolaryngology-Head and Neck Surgery, College of Medicine, Kyung Hee, 26, Kyungheedae-ro, Dongdaemun-gu, Seoul, 02447, South Korea.

Peripheral nerves, which consist of an axon and a unique glial cell called a Schwann cell, transduce signals from the brain and spinal cord to target organs. Peripheral nerve degeneration leads to distal motor or sensory disorders such as diabetic neuropathy, Charcot-Marie-Tooth disease, and Gullain-Barré syndrome, with symptoms such as dysesthesia, speech impairment, vision change, erectile dysfunction, and urinary incontinence. Schwann cells play an important role in peripheral nerve degeneration. Read More

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http://dx.doi.org/10.1007/s10735-019-09815-1DOI Listing
January 2019
1 Read

Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.

Int J Mol Sci 2019 Jan 18;20(2). Epub 2019 Jan 18.

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.

The pathology of Charcot-Marie-Tooth (CMT), a disease arising from mutations in different genes, has been associated with an impairment of mitochondrial dynamics and axonal biology of mitochondria. Mutations in () cause several forms of CMT neuropathy, but the pathogenic mechanisms involved remain unclear. GDAP1 is an outer mitochondrial membrane protein highly expressed in neurons. Read More

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http://dx.doi.org/10.3390/ijms20020403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359725PMC
January 2019

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons.

J Vis Exp 2019 Jan 7(143). Epub 2019 Jan 7.

Institut NeuroMyoGène, CNRS UMR5310, INSERM U1217, Université Lyon; Centre de Biotechnologie Cellulaire, Hospices Civils de Lyon.

Neurodegeneration of spinal motoneurons (MNs) is implicated in a large spectrum of neurological disorders including amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, and spinal muscular atrophy, which are all associated with muscular atrophy. Primary cultures of spinal MNs have been used widely to demonstrate the involvement of specific genes in such diseases and characterize the cellular consequences of their mutations. This protocol models a primary MN culture derived from the seminal work of Henderson and colleagues more than twenty years ago. Read More

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https://www.jove.com/video/57988/modeling-charcot-marie-toot
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http://dx.doi.org/10.3791/57988DOI Listing
January 2019
5 Reads

Dropped head syndrome as a manifestation of Charcot-Marie-Tooth disease type 4C.

Neuromuscul Disord 2018 Nov 29. Epub 2018 Nov 29.

Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul, Departamento de Medicina Interna, Faculdade de Medicina, Porto Alegre, RS, Brazil; Hospital de Clínicas de Porto Alegre, Serviço de Neurologia, Porto Alegre, RS, Brazil. Electronic address:

Charcot Marie Tooth disease type 4C (CMT4C) is considered the most frequent autosomal recessive form of CMT worldwide, being described as an early-onset disorder with marked clinical heterogeneity. We report a CMT4C case associated with dropped head syndrome and predominant involvement of proximal muscles. An 11-year-old boy born to consanguineous parents presented with predominantly proximal muscle weakness with facial involvement, associated with dropped head and severe scoliosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183050
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http://dx.doi.org/10.1016/j.nmd.2018.11.010DOI Listing
November 2018
4 Reads

Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.

J Peripher Nerv Syst 2019 Jan 17. Epub 2019 Jan 17.

Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.

Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities, and cranial nerve involvement. We screened SH3TC2 in 50 unrelated Greek patients with suspected demyelinating Charcot-Marie-Tooth disease and pedigree compatible with recessive inheritance. All patients had been previously screened for PMP22, GJB1, and MPZ mutations. Read More

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http://dx.doi.org/10.1111/jns.12305DOI Listing
January 2019
1 Read

Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A).

PLoS One 2019 16;14(1):e0209752. Epub 2019 Jan 16.

Max-Planck-Institute of Experimental Medicine, Department of Neurogenetics, Göttingen, Germany.

The most common type of Charcot-Marie-Tooth disease is caused by a duplication of PMP22 leading to dysmyelination, axonal loss and progressive muscle weakness (CMT1A). Currently, no approved therapy is available for CMT1A patients. A novel polytherapeutic proof-of-principle approach using PXT3003, a low-dose combination of baclofen, naltrexone and sorbitol, slowed disease progression after long-term dosing in adult Pmp22 transgenic rats, a known animal model of CMT1A. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209752PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6334894PMC
January 2019
1 Read

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Hum Mol Genet 2019 Jan 11. Epub 2019 Jan 11.

Biology.

Charcot-Marie-Tooth disease (CMT) type 2A is an axonal form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2). However, there is no understanding of the relationship of clinical phenotype to genotype. MFN2 has two functions: it promotes inter-mitochondrial fusion and mediates ER-mitochondrial tethering at mitochondria-associated ER membranes (MAM). Read More

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http://dx.doi.org/10.1093/hmg/ddz008DOI Listing
January 2019
2 Reads

Schwann cells, but not Oligodendrocytes, Depend Strictly on Dynamin 2 Function.

Elife 2019 Jan 16;8. Epub 2019 Jan 16.

Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Zurich, Zurich, Switzerland.

Myelination requires extensive plasma membrane rearrangements, implying that molecules controlling membrane dynamics play prominent roles. The large GTPase dynamin 2 (DNM2) is a well-known regulator of membrane remodeling, membrane fission, and vesicular trafficking. Here, we genetically ablated in Schwann cells (SCs) and in oligodendrocytes of mice. Read More

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https://elifesciences.org/articles/42404
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http://dx.doi.org/10.7554/eLife.42404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335055PMC
January 2019
12 Reads

Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.

J Biol Chem 2019 01 14. Epub 2019 Jan 14.

The Scripps Research Institute, United States.

Aminoacyl-tRNA synthetases (aaRSs) are essential enzymes that catalyze the first reaction in protein biosynthesis, namely, the charging of transfer RNAs (tRNAs) with their cognate amino acids. aaRSs have been increasingly implicated in dominantly and recessively inherited human diseases. The most common aaRS-associated monogenic disorder is the incurable neurodegenerative disease Charcot-Marie-Tooth neuropathy (CMT), caused by dominant mono-allelic mutations in aaRSs. Read More

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http://www.jbc.org/lookup/doi/10.1074/jbc.REV118.002955
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http://dx.doi.org/10.1074/jbc.REV118.002955DOI Listing
January 2019
5 Reads

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Neuromuscul Disord 2018 Dec 21. Epub 2018 Dec 21.

Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183108
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http://dx.doi.org/10.1016/j.nmd.2018.12.008DOI Listing
December 2018
6 Reads

Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study.

Eur Radiol 2019 Jan 11. Epub 2019 Jan 11.

Department of Radiology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, 81 Ilwon-Ro, Gangnam-gu, Seoul, 135-710, South Korea.

Objectives: This study aimed to evaluate whether diffusion tensor imaging (DTI) parameters and cross-sectional area (CSA) can differentiate between the sciatic nerve of Charcot-Marie-Tooth (CMT) disease type I (demyelinating form) patients and that of controls.

Methods: This prospective comparison study included 18 CMT type I patients and 18 age/sex-matched volunteers. Magnetic resonance imaging including DTI and axial T2-weighted Dixon sequence was performed for each subject. Read More

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http://link.springer.com/10.1007/s00330-018-5958-1
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http://dx.doi.org/10.1007/s00330-018-5958-1DOI Listing
January 2019
3 Reads

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Neurology 2019 Jan 9;92(4):e359-e370. Epub 2019 Jan 9.

From the Department of Neurology (V.F., W.D., K.W., R.A.-B., A.L.O., F.E.), Biostatistics Center, Department of Medicine (E.A.M.), and Department of Pathology (Neuropathology) (A.L.O.), Massachusetts General Hospital, Harvard Medical School, Boston; Clinical Chemistry (S.S., T.H.), University Hospital Zurich, Switzerland; and University of Massachusetts Medical School (P.N., D.M.-Y., R.B.), Worcester.

Objective: To evaluate the safety and efficacy of l-serine in humans with hereditary sensory autonomic neuropathy type I (HSAN1).

Methods: In this randomized, placebo-controlled, parallel-group trial with open-label extension, patients aged 18-70 years with symptomatic HSAN1 were randomized to l-serine (400 mg/kg/day) or placebo for 1 year. All participants received l-serine during the second year. Read More

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345118PMC
January 2019
13 Reads
8.286 Impact Factor

A Novel Mutation in the Stalk Domain of Causes a Slowly Progressive Atypical Motor Syndrome.

J Clin Med 2018 Dec 22;8(1). Epub 2018 Dec 22.

Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, 25100 Brescia, Italy.

encodes the heavy chain A of kinesin; A motor protein involved in motility functions within neuron. Mutations in the N-terminal motor domain are known to cause SPG10; An autosomal dominant hereditary spastic paraplegia (HSP), as well as rare Charcot-Marie-Tooth disease 2 (CMT2) cases. Recently C-terminal cargo-binding tail domain mutations have been associated with an amyotrophic lateral sclerosis (ALS) phenotype. Read More

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http://www.mdpi.com/2077-0383/8/1/17
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http://dx.doi.org/10.3390/jcm8010017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352268PMC
December 2018
4 Reads

and Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis.

Front Neurol 2018 7;9:1078. Epub 2018 Dec 7.

Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Lecco, Italy.

This paper describes the clinical evolution and the novel genetic findings in a mutated family previously reported as affected by spastic paraparesis only. The additional evidence we report here, a homozygous mutation detected in the proband, and the clinical evolution observed in the affected members of the family, are in line with the evidence of an overlap between Hereditary Spastic Paraplegias and Amyotrophic Lateral Sclerosis associated with variants in these genes. The proband, a 14-years-old boy, started manifesting a pure form of HSP at age 14 months. Read More

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http://dx.doi.org/10.3389/fneur.2018.01078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293196PMC
December 2018
1 Read

Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain).

J Peripher Nerv Syst 2018 Dec 19. Epub 2018 Dec 19.

Research Unit, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria.

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder. This study involves the entire known CMT patient registry in Gran Canaria, represented by 256 patients belonging to 79 unrelated families, who were clinically and genetically characterized, along with physical and neurophysiological evaluation on 181 and 165 patients, respectively. Complete genotyping showed an estimated prevalence of CMT disease of 30. Read More

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http://doi.wiley.com/10.1111/jns.12299
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http://dx.doi.org/10.1111/jns.12299DOI Listing
December 2018
5 Reads

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Int J Mol Sci 2018 Dec 17;19(12). Epub 2018 Dec 17.

John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

The neuromuscular junction (NMJ) appears to be a site of pathology in a number of peripheral nerve diseases. Charcot-Marie-Tooth (CMT) 4C is an autosomal recessive, early onset, demyelinating neuropathy. Numerous mutations in the gene have been shown to underlie the condition often associated with scoliosis, foot deformities, and reduced nerve conduction velocities. Read More

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http://dx.doi.org/10.3390/ijms19124072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320960PMC
December 2018
2 Reads

Reversible conduction failure on the deep tendon reflex response recording in early Guillain-Barré syndrome.

Clin Neurophysiol Pract 2018 3;3:159-163. Epub 2018 Nov 3.

Service of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", University of Cantabria and "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)", Santander, Spain.

Objective: To describe the case of a patient with Guillain-Barré syndrome (GBS) showing early reversible conduction failure (RCF) detected by means of serial deep tendon reflex response (T-reflex) study.

Methods: A 36-year-old woman had a 5-day history of foot and hand paresthesias ascending to thighs and arms, throbbing interscapular and neck pain, mild to moderate tetraparesis, and areflexia. Nerve conduction studies (NCS) were performed on days 7 and 33 after onset. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S2467981X183002
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http://dx.doi.org/10.1016/j.cnp.2018.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247394PMC
November 2018
6 Reads

CNS phenotype in X linked Charcot- Marie-Tooth disease.

J Neurol Neurosurg Psychiatry 2018 Dec 5. Epub 2018 Dec 5.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/jnnp-2018-319849DOI Listing
December 2018
2 Reads

Charcot Marie Tooth Disease. A Single Disorder?

Authors:
Michel Fontés

Int J Mol Sci 2018 Nov 29;19(12). Epub 2018 Nov 29.

C2VN, AIX Marseille Université, INRA 1260-INSERM 1263, 13007 Marseille, France.

Peripheral neuropathies are subdivided into acquired and hereditary transmitted disorders. [.. Read More

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http://dx.doi.org/10.3390/ijms19123807DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321061PMC
November 2018
1 Read

Long term results of the revisited Meary closing wedge tarsectomy for the treatment of the fixed cavo-varus foot in adolescent with Charcot-Marie-Tooth disease.

Foot Ankle Surg 2018 Nov 15. Epub 2018 Nov 15.

Pediatric Orthopedic Department, Necker Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, Paris Descartes University, 149 Rue de Sevres, 75015 Paris, France; Pediatric Orthopedic Department, Saint Vincent de Paul Hospital, Assistance Publique - Hôpitaux de Paris, Paris Descartes University, 74 Avenue Denfert-Rochereau, 75015 Paris, France.

Background: Various techniques have been proposed for the treatment of cavovarus feet (CVF). The aim of this study was to report outcomes of the revisited Meary's dorsal closing wedge tarsectomy for fixed CVF secondary to Charcot-Marie-Tooth (CMT) disease.

Methods: All CVF operated on between 1977 and 2011 were included. Read More

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http://dx.doi.org/10.1016/j.fas.2018.11.005DOI Listing
November 2018
3 Reads

Peripheral nerve disease.

Authors:
Gita Ramdharry

Handb Clin Neurol 2018 ;159:403-415

Faculty of Health, Social Care and Education, Kingston University and Queen Square MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom. Electronic address:

Polyneuropathies are common neurologic disorders affecting the peripheral nerves. There are a number of causes of damage to these structures, such as genetic and metabolic factors, autoimmune disorders, infection, drug or environmental toxicity, and malignancy. Motor and sensory impairments are commonly encountered in these conditions, leading to altered balance and gait with increased risk of falling. Read More

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http://dx.doi.org/10.1016/B978-0-444-63916-5.00026-4DOI Listing
January 2018

Monitoring Heart Rate Variability Before and After a Marathon in an Elite Wheelchair Athlete: A Case Study.

J Sports Sci Med 2018 Dec 20;17(4):557-562. Epub 2018 Nov 20.

Sports Research Centre, Miguel Hernandez University, Elche, Spain.

The purpose of this study was to analyze heart rate variability (HRV) oscillations before and after a marathon which involved trans-meridian air travel and substantial time zone differences in a professional wheelchair athlete with Charcot-Marie-Tooth (CMT) disease. The natural logarithm of the root mean square difference between adjacent normal R-R intervals (Ln rMSSD) was measured daily on the days before, including and following the race. Relative to baseline, small (-3. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243632PMC
December 2018
1 Read

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.

Brain 2018 Dec;141(12):3319-3330

Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In the absence of disease-specific clinical trial outcome measures for CMT during infancy and early childhood the aim of this study was to develop and validate a functional measure of disease severity, known as the Charcot-Marie-Tooth disease Infant Scale (CMTInfS). Read More

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http://dx.doi.org/10.1093/brain/awy280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312041PMC
December 2018
2 Reads

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.

Sci Rep 2018 Nov 15;8(1):16900. Epub 2018 Nov 15.

Molecular Biology Unit, Mossakowski Medical Research Centre, PAS, 02-106, Warsaw, 5 Pawińskiego St, Poland.

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant neuropathy caused by mutations in the mitofusin 2 gene (MFN2). More than 100 MFN2 gene mutations have been reported so far, with majority located within the GTPase domain encoding region. These domain-specific mutations present wide range of symptoms with differences associated with distinct amino acid substitutions in the same position. Read More

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http://www.nature.com/articles/s41598-018-35133-9
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http://dx.doi.org/10.1038/s41598-018-35133-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237821PMC
November 2018
7 Reads

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

Neurotherapeutics 2018 10;15(4):966-975

Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.

Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for mediating membrane fission by oligomerizing at the neck of membrane invaginations. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromuscular diseases: autosomal dominant centronuclear myopathy (ADCNM) and dominant intermediate Charcot-Marie-Tooth neuropathy (CMT). CNM and CMT mutations may affect DNM2 in distinct manners: CNM mutations may cause protein hyperactivity with elevated GTPase and fission activities, while CMT mutations could impair DNM2 lipid binding and activity. Read More

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http://link.springer.com/10.1007/s13311-018-00686-0
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http://dx.doi.org/10.1007/s13311-018-00686-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277281PMC
October 2018
8 Reads

An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.

ASN Neuro 2018 Jan-Dec;10:1759091418803282

1 Department of Neurology, Jungers Center for Neurosciences Research, Oregon Health & Science University, Portland, OR, USA.

Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. Although mouse models of CMT4B2 exist, an in vitro model would make possible pharmacological and reverse genetic experiments needed to clarify the role of MTMR13 in myelination. We have generated such a model using Schwann cell-dorsal root ganglion (SC-DRG) explants from Mtmr13 mice. Read More

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http://journals.sagepub.com/doi/10.1177/1759091418803282
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http://dx.doi.org/10.1177/1759091418803282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236487PMC
November 2018
8 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
7 Reads
6.340 Impact Factor

Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.

Neuromuscul Disord 2018 Dec 5;28(12):1016-1021. Epub 2018 Oct 5.

University Hospital of North Midlands NHS Trust, United Kingdom.

Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183044
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http://dx.doi.org/10.1016/j.nmd.2018.09.008DOI Listing
December 2018
14 Reads

Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.

J Peripher Nerv Syst 2018 Nov 5. Epub 2018 Nov 5.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.

We report the first family with a glycyl-tRNA synthetase (GARS) mutation with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT). The proband and the proband's father presented with gait disturbance and hand weakness. Both patients displayed moderately decreased conduction velocities (MNCV) (ranging from 29. Read More

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http://doi.wiley.com/10.1111/jns.12289
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http://dx.doi.org/10.1111/jns.12289DOI Listing
November 2018
9 Reads

Clinical validity of novel postural stabilization experimental indices based on hyperbolic transformation.

Gait Posture 2019 01 25;67:147-150. Epub 2018 Sep 25.

IRCCS Fondazione Don Carlo Gnocchi, Milano, Italy.

Background: Postural stabilization is the function which allows an individual, after a transitional movement, to recover balance in a quiet erect posture. An experimental method has been proposed (Rabuffetti, 2011) and proved valid for the assessment of balance disorders in individuals with neurological diseases. It would seem that the two original indices were not fully independent since their concurrent distribution was confined by a hyperbolic boundary. Read More

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http://dx.doi.org/10.1016/j.gaitpost.2018.09.024DOI Listing
January 2019
7 Reads

Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy.

Tex Heart Inst J 2018 08 1;45(4):270-272. Epub 2018 Aug 1.

Charcot-Marie-Tooth disease comprises a vast array of defects in myelin integrity that causes progressive peripheral sensorimotor neuropathy. It is the most prevalent inherited peripheral neuropathy, and it can affect the management of coexisting medical conditions. We report the case of a 25-year-old woman who had undergone successful Fontan surgery during childhood, but her Fontan circulation failed as a result of diaphragmatic paresis caused by Charcot-Marie-Tooth disease type 1A. Read More

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http://thij.org/doi/10.14503/THIJ-17-6337
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http://dx.doi.org/10.14503/THIJ-17-6337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183634PMC
August 2018
8 Reads

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

BMJ Open 2018 Oct 28;8(10):e021632. Epub 2018 Oct 28.

Département de génétique médicale, Hôpital Timone enfants, Assistance Publique Hôpitaux de Marseille, Marseille, France.

Purpose: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. Read More

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http://bmjopen.bmj.com/lookup/doi/10.1136/bmjopen-2018-02163
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http://dx.doi.org/10.1136/bmjopen-2018-021632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224714PMC
October 2018
13 Reads

Walking Speed is Correlated with the Isokinetic Muscular Strength of the Knee in Patients with Charcot-Marie-Tooth Type 1A.

Am J Phys Med Rehabil 2018 Oct 26. Epub 2018 Oct 26.

Service de Médecine Physique et de Réadaptation, CHU Clermont-Ferrand, INRA, Université Clermont Auvergne, Clermont-Ferrand, France.

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Affected individuals have a distal motor deficit, initially affecting the lower limbs and impairing walking performance. Isokinetic dynamometry can be used to objectively assess muscle strength of patients with neuromuscular disorders. Read More

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http://dx.doi.org/10.1097/PHM.0000000000001084DOI Listing
October 2018
1 Read

HDAC6 as a potential therapeutic target for peripheral nerve disorders.

Expert Opin Ther Targets 2018 Dec;22(12):993-1007

a Department of Neurosciences , KU Leuven - University of Leuven, Experimental Neurology and Leuven Brain Institute (LBI) , Leuven , Belgium.

Introduction: Peripheral neuropathies are a heterogeneous group of diseases that are characterized by a progressive, ascending loss of nerve function arising from the peripheral regions of the limbs. The phenotypic overlap between different types of hereditary and acquired peripheral neuropathies indicates that similar pathophysiological processes are at play. Many downstream pathways in peripheral neurons, such as axonal transport, protein degradation, and interactions with Schwann cells, organelle damage, channelopathies, and neuroinflammatory signaling, have been proposed and each affects peripheral nerves in a negative way. Read More

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http://dx.doi.org/10.1080/14728222.2018.1541235DOI Listing
December 2018
2 Reads

Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations.

Arch Pediatr 2018 Nov 16;25(8):452-458. Epub 2018 Oct 16.

Neuropediatric department, La Timone Teaching hospital, 264, rue Saint-Pierre, 13385 Marseille, France.

Introduction: Charcot-Marie-Tooth disease (CMT) is an inherited peripheral neuropathy with an impact on patients' quality of life and wide genetic heterogeneity. Next-generation sequencing (NGS) has extended the molecular diagnosis. This study aims to describe a cohort of patients with CMT onset in childhood to explore genotype-phenotype correlations. Read More

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http://dx.doi.org/10.1016/j.arcped.2018.09.006DOI Listing
November 2018

Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score.

Disabil Rehabil 2018 Oct 18:1-6. Epub 2018 Oct 18.

a Centro Sclerosi Multipla, Department of Medical Science and Public Health , University of Cagliari , Cagliari , Italy.

Background: Gait analysis is a reliable tool to characterise ambulation in Charcot-Marie-Tooth, the obtained are complex data makes its use scarce in clinical practice. The use of synthetic measures may enable the clinician to easily interpret gait kinematics in Charcot-Marie-Tooth.

Aims: To test the usefulness of Gait Profile Score as a method to quantify and monitor kinematic gait alterations in Charcot-Marie-Tooth. Read More

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http://dx.doi.org/10.1080/09638288.2018.1506946DOI Listing
October 2018
2 Reads

Fits, feet and HIV: lessons from a case of coexisting epilepsy and neuropathy in a patient with perinatally acquired HIV-1 infection.

BMJ Case Rep 2018 Oct 16;2018. Epub 2018 Oct 16.

St. Mary's Hospital, London, UK.

An 18-year-old black African man with well-controlled perinatally acquired HIV-1 was diagnosed in late adolescence with the unrelated diagnoses of Charcot-Marie-Tooth type 1A (CMT1A), epilepsy due to polymicrogyria and subsequently developed severe depression. The CMT1A diagnosis occurred after transfer of care from a local paediatric HIV service to a tertiary paediatric referral centre and was precipitated by recognition of a history and neurological signs not typically associated with perinatal HIV. The case resulted in the establishment of a quarterly combined paediatric HIV and paediatric neurology multidisciplinary team clinic to assess children and adolescents living with HIV with neurological symptoms. Read More

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http://dx.doi.org/10.1136/bcr-2018-226042DOI Listing
October 2018
4 Reads

Role of Alpha-methylacyl-CoA racemase gene in pathogenecity of CMT patients.

J Pak Med Assoc 2018 Jul;68(7):1039-1042

Department of Biosciences, COMSATS Institute of Information Technology Sahiwal Campus.

Objective: To find the causative mutation by linkage analysisof Charcot-Marie-Tooth disease while focussing on AMACR gene.

Methods: The case-control study was conducted from November 2016 to March 2017 in Kongju National University Korea.A family of 15 members with composite symptoms of peripheral neuropathy were enrolled. Read More

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July 2018
8 Reads