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SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve by Craig L. Bennett; Andrew J. Shirk; Huy M. Huynh; Valerie A. Street; Eva Nelis; Lionel Van Maldergem; Peter De Jonghe; Albena Jordanova; Velina Guergueltcheva; Ivailo Tournev; Peter Van den Bergh; Pavel Seeman; Radim Mazanec; Tomas Prochazka; Ivo Kremensky; Jana Haberlova; Michael D. Weiss; Vincent Timmerman; Thomas D. Bird; Phillip F. Chance is a Medicine article available to read on EtoBox.

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## Abstract Charcot–Marie–Tooth neuropathy type 1C (CMT1C) is an autosomal dominant demyelinating peripheral neuropathy caused by missense mutations in the small integral membrane protein of lysosome/late endosome (__SIMPLE__) gene. To investigate the prevalence of __SIMPLE__ mutations, we screened a cohort of 152 probands with various types of demyelinating or axonal and pure motor or sensory inherited neuropathies. __SIMPLE__ mutations were found only in CMT1 patients, including one G112S and one W116G missense mutations. A novel I74I polymorphism was identified, yet no splicing defect of __SIMPLE__ is likely. Haplotype analysis of STR markers and intragenic SNPs linked to the gene demonstrated that families with the same mutation are unlikely to be related. The clustering of the G112S, T115N, and W116G mutations within five amino acids suggests this domain may be critical to peripheral nerve myelination. Electrophysiological studies showed that CMT1C patients from six pedigrees (n = 38) had reduced nerve conduction velocities ranging from 7.5 to 27.0m/sec (peroneal). Two patients had temporal dispersion of nerve conduction and irregularity of conduction slowing, which is unusual

Who reads SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve?

Author

Craig L. Bennett; Andrew J. Shirk; Huy M. Huynh; Valerie A. Street; Eva Nelis; Lionel Van Maldergem; Peter De Jonghe; Albena Jordanova; Velina Guergueltcheva; Ivailo Tournev; Peter Van den Bergh; Pavel Seeman; Radim Mazanec; Tomas Prochazka; Ivo Kremensky; Jana Haberlova; Michael D. Weiss; Vincent Timmerman; Thomas D. Bird; Phillip F. Chance

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0364-5134)

Published

2004

Language

EN

Field

Medicine (Health Sciences)