Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).

Abstract:

:Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c.281G-->A) in the MFN2 gene. Clinically, the patient presented with early-onset CMT that was not associated with additional central nervous system pathology. The disease course was rapidly progressive in the first years and slowed afterwards. We also suggest that single patients with early-onset axonal polyneuropathies should be screened for MFN2 mutations.

journal_name

Eur J Neurol

authors

Neusch C,Senderek J,Eggermann T,Elolff E,Bähr M,Schneider-Gold C

doi

10.1111/j.1468-1331.2006.01688.x

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

575-7

issue

5

eissn

1351-5101

issn

1468-1331

pii

ENE1688

journal_volume

14

pub_type

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