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Erschienen in:

01.04.2007 | Original Paper

Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance

verfasst von: Jean-Michel Vallat, Laurent Magy, Emmeline Lagrange, Franck Sturtz, Corinne Magdelaine, Djamel Grid, Mériem Tazir

Erschienen in: Acta Neuropathologica | Ausgabe 4/2007

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Abstract

We report two sporadic patients of CMT disease in different consanguineous families. The electrophysiological examination led to the diagnosis of a severe demyelinating neuropathy. The nerve biopsies exhibited numerous outfoldings of the myelin sheaths and onion-bulb proliferations. The consanguinity and the histological findings pointed to a diagnosis of CMT 4B. However, the detection of abnormal and regular widenings between the major dense lines of the myelin lamellae by electron microscopy led us to search for a P0 gene mutation. Two heterozygous mutations of this gene were identified: S63F and N131Y. Different aspects of uncompacted myelin lamellae have been described in some cases of P0 mutations and a few now appear to be quite specific to it. More than 30 genes are implicated in CMT and as mutation search is time- and money-consuming, we believe that in some selected patients ultrastructural examination of nerves, among other criteria, helps orientate the molecular diagnosis of CMT.

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Titel: Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance
verfasst von: Jean-Michel Vallat
Laurent Magy
Emmeline Lagrange
Franck Sturtz
Corinne Magdelaine
Djamel Grid
Mériem Tazir
Publikationsdatum: 01.04.2007
Verlag: Springer-Verlag
Erschienen in: Acta Neuropathologica / Ausgabe 4/2007
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-007-0196-7

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