CMT 2A: Co-occurrence of ALS and Charcot-Marie-Tooth in a patient with a novel m

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Neuromuscul Disord. 2010 Oct 13

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease

type 2A in a patient with a novel mutation in the mitofusin-2 gene.

Marchesi C, Ciano C, Salsano E, Nanetti L, Milani M, Gellera C, Taroni F,

Fabrizi GM, Uncini A, Pareyson D.

Unit of Clinic of Central and Peripheral Degenerative Neuropathies, IRCCS

Foundation, C. Besta Neurological Institute, Milan, Italy.

Abstract

Mitofusin-2 gene (MFN2) mutations cause Charcot-Marie-Tooth type 2A (CMT2A),

sometimes complicated by additional features such as optic atrophy, hearing

loss, upper motor neuron signs and cerebral white-matter abnormalities.

Here we report, for the first time, the occurrence of motor neuron disease,

consistent with amyotrophic lateral sclerosis (ALS), in a 62-year-old woman

affected by early-onset slowly progressive CMT2A, due to a novel MFN2 mutation.

After age 60, rate of disease progression changed and she rapidly developed

generalised muscle wasting, weakness, and fasciculations, together with

dysarthria and dysphagia. Clinical features, EMG findings, and fast progression

were consistent with ALS superimposed on CMT.