Mutation in CMT mimicks FA research from Greece

[Guest guest]

(This one is of special personal interest as back in my 20's, I was

rediagnosed with FA ~ G)

1: J Neurol 2002 Nov;249(11):1583-6

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

Panas M, Kalfakis N, Karadima G, Davaki P, Vassilopoulos D.

Department of Neurology, Athens National University, Eginition Hospital,

74 Vas. Sophias Av., 11528, Athens, Greece. mpanas@...

Four patients from three unrelated families, with clinical and

electrophysiological findings compatible with the diagnosis of

hereditary motor and sensory neuropathy, are presented. The molecular

analysis showed that the affected individuals were homozygous for the

mutation in the X25 gene, characteristic of Friedreich's ataxia. These

patients seem to represent a form of Friedreich's ataxia mimicking

Charcot-Marie-Tooth

disease.