early-onset slowly progressive demyelinating CMT: A 71-nucleotide deletion in th

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Eur J Neurol. 2008 Apr 8

A 71-nucleotide deletion in the periaxin gene in a Romani patient

with early-onset slowly progressive demyelinating CMT.

Baránková L, Sišková D, Hühne K, Vyhnálková E, Sakmaryová I, Bojar M,

Rautenstrauss B, Seeman P.

Department of Neurology, 2nd School of Medicine, University

Prague, Prague, Czech Republic.

Background: Mutations in the periaxin (PRX) gene cause autosomal

recessive demyelinating neuropathy Charcot-Marie-Tooth (CMT) type 4F.

To date, 10 non-sense or frameshift PRX mutations have been reported

in patients with early-onset neuropathy and further disease course

consistent with either Dejerine-Sottas neuropathy or slow-progressive

demyelinating CMT.

Methods: We sequenced 59 patients from 55 Czech families including

four unrelated patients of Romani (Gypsy) origin with early-onset CMT

displaying decreased nerve conduction velocities.

Results: We identified a novel homozygous mutation c.3286_3356del71

(K1095fsX18) in one Romani patient showing very slow disease

progression. Amongst non-Romani Czech CMT patients, PRX mutations

have been proven to be very rare.