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A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Abstract：

:Charcot-Marie-Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Ciotti P,Luigetti M,Geroldi A,Capponi S,Pezzini I,Gulli R,Pazzaglia C,Padua L,Massa R,Mandich P,Bellone E

doi

10.1016/j.jns.2014.05.029

subject

Has Abstract

pub_date

2014-08-15 00:00:00

pages

183-6

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(14)00319-0

journal_volume

343

pub_type

杂志文章

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