Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

Mathis, Stéphane; Goizet, Cyril; Tazir, Mériem; Magdelaine, Corinne; Lia, Anne‐Sophie; Magy, Laurent; Vallat, Jean‐Michel

doi:10.1136/jmedgenet-2015-103272

Cited by 83 publications

(70 citation statements)

References 65 publications

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“…CMTs affect up to 1 in 1,214 in the general population (Mathis et al, 2015) and involve progressive dysfunction of lower motor and sensory nerves leading to distal muscle weakness or atrophy, typically accompanied with reflex reduction, foot deformities and sensory impairments (Szigeti and Lupski, 2009). Based on genetic causes, CMT can be divided into nine groups (CMT1–6, CMTDI, CMTRI and CMTX), among which CMT1, CMT2 and CMTX are the most frequent subtypes (Mathis et al, 2015). Type I demyelinating CMTs can be further classified into six subtypes (CMT1A–F) according to genetic mutations (Szigeti and Lupski, 2009).…”

Section: Myelin Dysfunction In Hereditary Neuropathiesmentioning

confidence: 99%

“…This inherent repair capacity of the PNS is evident in chronic conditions such as hereditary neuropathies which can involve hyperproliferation of Schwann cells and onion bulb formations, the results of repeated remyelination efforts. Unraveling the genetics of hereditary neuropathies and establishing animal models for the various PNS myelin proteins (Martini, 1997; Mathis et al, 2015) have provided key information for current efforts in myelin repair. Thorough understanding of the signaling mechanisms and the biological activities of peripheral nerve proteins, including those linked with peripheral neuropathies, are required for the design of effective and long-lasting myelin repair strategies that will support functional recovery.…”

Section: Introductionmentioning

confidence: 99%

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Promoting peripheral myelin repair

Zhou

Notterpek

2016

Experimental Neurology

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Compared to the central nervous system (CNS), peripheral nerves have a remarkable ability to regenerate and remyelinate. This regenerative capacity to a large extent is dependent on and supported by Schwann cells, the myelin-forming glial cells of the peripheral nervous system (PNS). In a variety of paradigms, Schwann cells are critical in the removal of the degenerated tissue, which is followed by remyelination of newly-regenerated axons. This unique plasticity of Schwann cells has been the target of myelin repair strategies in acute injuries and chronic diseases, such as hereditary demyelinating neuropathies. In one approach, the endogenous regenerative capacity of Schwann cells is enhanced through interventions such as exercise, electrical stimulation or pharmacological means. Alternatively, Schwann cells derived from healthy nerves, or engineered from different tissue sources have been transplanted into the PNS to support remyelination. These transplant approaches can then be further enhanced by exercise and/or electrical stimulation, as well as by the inclusion of biomaterial engineered to support glial cell viability and neurite extension. Advances in our basic understanding of peripheral nerve biology, as well as biomaterial engineering, will further improve the functional repair of myelinated peripheral nerves.

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Section: Myelin Dysfunction In Hereditary Neuropathiesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Promoting peripheral myelin repair

Zhou

Notterpek

2016

Experimental Neurology

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“…Because this brief review focuses on some genetic mutations that are associated with abnormalities in axon transport, the reader is referred to recent comprehensive reviews that present the mutations discussed here and the broader panoply of genetic mutations associated with inherited neuropathies in tabulated form. 29,30 Genetic (inherited) PNs, generally also known as CharcotMarie-Tooth (CMT) disease or hereditary motor and sensory neuropathy, constitute the most common inherited neuromuscular diseases, and they affect at least 1 in 2500 humans. 31 These are a group of heterogeneous diseases caused by many different genetic mutations that lead to neuropathy with involvement of either or both sensory and motor systems and sometimes sensory and autonomic nervous systems.…”

Section: Axon Transport and Its Role In Neuron And Axon Homeostasismentioning

confidence: 99%

Axon Transport and Neuropathy

Tourtellotte

2016

The American Journal of Pathology

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Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend. (Am J Pathol 2016, 186: 489e499; http://dx

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“…[18] Mutations in SBF2 cause Type 4B CMT, the only type of CMT with an autosomal recessive pattern of inheritance and characterized by axonal degeneration and myelin outfolding. [19]…”

Section: Discussionmentioning

confidence: 99%

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans

et al. 2016

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PurposeTaxane-induced peripheral neuropathy (TIPN) is one of the most important survivorship issues for cancer patients. African Americans (AA) have previously been shown to have an increased risk for this toxicity. Germline predictive biomarkers were evaluated to help identify a priori which patients might be at extraordinarily high risk for this toxicity.Experimental designWhole exome sequencing was performed using germline DNA from 213 AA patients who received a standard dose and schedule of paclitaxel in the adjuvant, randomized phase III breast cancer trial, E5103. Cases were defined as those with either grade 3-4 (n=64) or grade 2-4 (n=151) TIPN and were compared to controls (n=62) that were not reported to have experienced TIPN. We retained for analysis rare variants with a minor allele frequency <3% and which were predicted to be deleterious by protein prediction programs. A gene-based, case-control analysis using SKAT was performed to identify genes that harbored an imbalance of deleterious variants associated with increased risk of TIPN.ResultsFive genes had a p-value < 10−4 for grade 3-4 TIPN analysis and three genes had a p-value < 10−4 for the grade 2-4 TIPN analysis. For the grade 3-4 TIPN analysis, SET binding factor 2 (SBF2) was significantly associated with TIPN (p-value=4.35 x10−6). Five variants were predicted to be deleterious in SBF2. Inherited mutations in SBF2 have previously been associated with autosomal recessive, Type 4B2 Charcot-Marie-Tooth (CMT) disease.ConclusionRare variants in SBF2, a CMT gene, predict an increased risk of TIPN in AA patients receiving paclitaxel.

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Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

Abstract: We suggest a modification of the current classification and explain why such a change is needed.

Cited by 83 publications

References 65 publications

Promoting peripheral myelin repair

Promoting peripheral myelin repair

Axon Transport and Neuropathy

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans

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