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Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

Authors :
M. Akbar
A. Guilbot
M Kabiraj
Mustafa A. Salih
M. H. S. Al-Turaiki
Jon Andoni Urtizberea
M. Al Rayess
Thierry Maisonobe
Alexis Brice
Eric LeGuern
D. Grid
Tarik Hamadouche
A. Tahan
Source :
Neuromuscular Disorders. 10:10-15
Publication Year :
2000
Publisher :
Elsevier BV, 2000.

Abstract

We describe a six generation Saudi kindred, with a recessive hereditary motor and sensory neuropathy (HMSN). Four individuals were affected including two children (a boy and a girl) and a 23-year-old man. The fourth (a female) died at the age of 14 years. Onset of the disease was early (2 years) and the clinical and neurophysiological features were, generally, quite similar to those of an Italian family linked to chromosome 11q23. The peculiar pathologic pattern was irregular and redundant loops associated with folding of the myelin sheaths. The genetic study confirmed linkage to chromosome 11q23 and refined the location of the gene between D11S1311 and D11S917, a 3.3 cM region. These findings support the existence of a homogeneous and distinct entity within the form of HMSN associated with focally folded myelin sheaths.

Details

ISSN :
09608966
Volume :
10
Database :
OpenAIRE
Journal :
Neuromuscular Disorders
Accession number :
edsair.doi.dedup.....297c88da0eb73095620f9436a64cce68
Full Text :
https://doi.org/10.1016/s0960-8966(99)00057-7