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SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
CL Bennett, AJ Shirk, HM Huynh, VA Street, E Nelis, Maldergem L Van, Jonghe P De, A Jordanova, V Guergueltcheva, I Tournev, Den Bergh P Van, P Seeman, R Mazanec, T Prochazka, I Kremensky, J Haberlova, MD Weiss, V Timmerman, TD Bird, PF Chance
Language English Country United States
Document type Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.
Grant support
NF6504
MZ0
CEP Register
Digital library NLK
Full text - Část
Source
NLK
Wiley Online Library (archiv)
from 1996-01-01 to 2012-12-31
- MeSH
- Charcot-Marie-Tooth Disease * genetics physiopathology pathology MeSH
- Nuclear Proteins * analysis genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation * MeSH
- Sciatic Nerve * physiology chemistry pathology MeSH
- Pedigree MeSH
- Aged MeSH
- Transcription Factors * analysis genetics MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Research Support, U.S. Gov't, P.H.S. MeSH
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 for CMT1 patients. We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C.
Deparment of Child Neurology 2nd School of Medicine Charles University Prague
Deparment of Neurology 2nd School of Medicine Charles University Prague
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- $a 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 for CMT1 patients. We report the expression of SIMPLE in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C.
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