Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation

Anne Vital, Guilhem Sole, Philippe Casenave, Corinne Magdelaine, Xavier Ferrer, Claude Vital, Cyril Goizet
J Peripher Nerv Syst. 2013-06-01; 18(2): 181-184
DOI: 10.1111/JNS5.12028

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1. J Peripher Nerv Syst. 2013 Jun;18(2):181-4. doi: 10.1111/jns5.12028.

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24
PMP22 point mutation.

Vital A(1), Sole G, Casenave P, Magdelaine C, Ferrer X, Vital C, Goizet C.

Author information:
(1)Institut des Maladies Neurodégénératives, CNRS UMR 5293, Université de
Bordeaux, Bordeaux, France.

We report a severe phenotype of Charcot-Marie-Tooth (CMT) disease type 1E caused
by a novel p.Phe84Leufs*24 PMP22 point mutation. Ultrastructural examination of a
nerve biopsy showed non- or partly myelinated axons which were surrounded by
« onion bulb » formations mainly composed of concentric basement membranes and
characterized by the presence of prominent concentric or longitudinal collagen
fibrils interspersed with basement membranes. PMP22 point mutations are rare and
responsible for polyneuropathies often demyelinating with onion bulb formations
composed of concentric and redundant basement membranes. Entrapment of prominent
collagen fibrils within onion bulb formations is unusual, even in the large
spectrum of CMT disease with long duration and severe damage.

© 2013 Peripheral Nerve Society.

DOI: 10.1111/jns5.12028
PMID: 23781966 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus