Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation

Barišić, Nina; Claeys, Kristl G.; Sirotković-Skerlev, Maja; Löfgren, A.; Nelis, Eva; Jonghe, Peter De; Timmerman, Vincent

doi:10.1111/j.1469-1809.2007.00412.x

Cited by 144 publications

(172 citation statements)

References 191 publications

(213 reference statements)

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“…3 The most common clinical phenotype is Charcot-Marie-Tooth (CMT) disease characterized by a lengthdependent sensorimotor neuropathy with progressive distal weakness, muscle atrophy, sensory loss and foot deformities. [4][5][6] The distal hereditary motor neuropathies (dHMNs) are much rarer and present with a progressive distal motor weakness without sensory abnormalities. 7,8 The disease usually starts in the lower limbs.…”

Section: Introductionmentioning

confidence: 99%

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

et al. 2013

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Distal hereditary motor neuropathies (dHMNs) are a heterogenous group of genetic disorders with length-dependent degeneration of motor axons. Obtaining a genetic diagnosis in patients with dHMN remains challenging. We performed exome sequencing in a diagnostic setting in 12 patients with a clinical diagnosis of dHMN. Potential disease-causing variants in genes associated with dHMN and other forms of inherited neuropathies/motor neuron diseases were validated using Sequenom. The coverage in the genes studied was 495% with an average coverage of 450 times. In none of the patients a mutations was found in genes previously reported to be associated with dHMN. However, in 2/12 patients a recessive mutation in histidine triad nucleotide binding protein 1 (HINT1, recently discovered as a cause of axonal neuropathy with neuromyotonia) was identified. Our results demonstrate the diagnostic value of exome sequencing for patients with inherited neuropathies. The phenotypic spectrum of recessive mutations in HINT1 includes dHMN. HINT1 should be added to the list of genes to check for in dHMN.

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Section: Introductionmentioning

confidence: 99%

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

et al. 2013

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“…In particular, hereditary motor and sensory neuropathy (HMSN) or CharcotMarie-Tooth disease is known to be associated with a number of causative genes. 1,2 HMSN is a heterogeneous group of degenerative peripheral nerve disorders, which altogether constitute the most common inherited neurological disease, with an incidence of 1 in 2500. 3 Glycoconjugates, such as glycoproteins, proteoglycans and gangliosides, are important constituents of both the central and peripheral nervous systems.…”

Section: Introductionmentioning

confidence: 99%

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

et al. 2010

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Chondroitin sulfate proteoglycans (CSPGs) in the peripheral nervous system likely participate as regulatory molecules in the process of axonal degeneration and regeneration. We investigated the chondroitin beta1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) gene in 114 patients affected with neuropathies including Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, hereditary motor and sensory neuropathy (HMSN) and unknown etiology. The controls were 196 patients with other neurological diseases. We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively. None of the patients with other neurological diseases had either of these mutations. We then synthesized the two soluble forms of ChGn-1, containing each of the above mutations. Each of the soluble mutants was expressed in COS-1 cells and the mutant proteins were purified. The purified mutant proteins were used for western blotting analysis using an anti-ChGn-1 antibody and evaluated for glycosyltransferase activities. Although the expression of the ChGn-1 mutant proteins was confirmed by western blotting, they exhibited no N-acetylgalactosamineT-II activities. It is possible that these mutations are associated with the pathogenetic mechanisms of the peripheral neuropathies.

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“…The prevalence of the disease is 17-40 per 100,000 people [3]. So far, more than 40 genes and 900 loci have been identified for their association with the disease (http://www.molgen.ua.ac.be/ CMTMutations/Mutations/MutByGene.cfm).…”

Section: Introductionmentioning

confidence: 99%

Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease

Li¹

2013

J Mol Biomark Diagn

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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation

Cited by 144 publications

References 191 publications

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies

Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease

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