CMT 2A: Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyn

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Eur J Neurol. 2007 May;14(5):575-7.

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

polyneuropathy (CMT2A).

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

C.

Department of Neurology, University Gottingen, Gottingen, Germany.

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.