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Ultrastructural protein zero expression in Charcot–Marie–Tooth type 1B Disease

✍ Scribed by Philippe Sindou; Jean-Michel Vallat; Françoise Chapon; Juan-José Archelos; François Tabaraud; Thierry Anani; Kyle G. Braund; Thierry Maisonobe; Jean-Jacques Hauw; Antoon Vandenberghe

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
205 KB
Volume
22
Category
Article
ISSN
0148-639X

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✦ Synopsis

Charcot-Marie-Tooth type 1B (CMT 1B) disease, an inherited demyelinating peripheral neuropathy, results from different point mutations located in the P0 gene on chromosome 1 q21-23. We have quantified, at the ultrastructural level, the immunocytochemical expression of the P0 protein in two unrelated CMT 1B patients with mutations (Ser 78 to Leu and Asn 122 to Ser) located in two different exons in the extracellular domain of the protein. A twofold decrease in P0 expression was observed in compact myelin in each case, compared with age-matched controls. The severity of the phenotypes showed no direct relationship to the levels of P0 protein expression in these 2 patients.

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