CMT 4A and 2K: Clinical, Electrophysiological and Genetic Studies of Two Familie

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Neuropediatrics. 2008 Jun;39(3):184-7.

Clinical, Electrophysiological and Genetic Studies of Two Families

with Mutations in the GDAP1 Gene.

Rougeot C, Chabrier S, Camdessanche JP, Prieur F, d'Anjou MC, Latour

P.

1Department of médecine physique et de réadaptation pédiatrique,

centre hospitalier universitaire, Saint-Etienne, France.

Mutations in the gene for the ganglioside-induced-differentiation-

associated-protein 1 on 8q21 were recently reported to cause

autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We

report a detailed clinical, electrophysiological and genetic study of

two young patients harbouring missense GDAP1 mutations.

The two patients presented severe neuropathy with an early onset. One

of the mutations (Tyr279Cys) has never been hitherto reported.

Electrophysiological investigations suggested a predominant axonal

damage in both patients. Despite the similitude of the type of

mutations and electromyographic features, the clinical course was

different for the patients, highlighting the complexity of

genotype/phenotype relationships among GDAP1 mutations.