Co-occurrence of ALS and CMT 2A in a patient with a novel mutation in the mitofu

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Neuromuscular Disorders Volume 21, Issue 2, Pages 129-131 (February 2011)

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

Chiara Marchesia, Cianoa, Ettore Salsanoa, Lorenzo Nanettia, Micaela

Milanib, Cinzia Gellerab, Franco Taronib, Gian Fabrizic, Antonino Uncinid,

e Pareyson

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.

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Whew! That really makes me feel good!

L.

On 21-Jan-11, at 12:49 PM, -owner wrote:

> Neuromuscular Disorders Volume 21, Issue 2, Pages 129-131 (February

> 2011)

>

> 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

>

> Chiara Marchesia, Cianoa, Ettore Salsanoa, Lorenzo Nanettia,

> Micaela Milanib, Cinzia Gellerab, Franco Taronib, Gian

> Fabrizic, Antonino Uncinid, e Pareyson

>

> 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.

>

>

>