CMT disease due to Novel Myelin Protein Zero Mutation Presenting as Late-Onset R

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J Clin Neuromuscul Dis. 2010 Jun;11(4):187-90

Charcot-Marie-Tooth Disease due to Novel Myelin Protein Zero Mutation Presenting

as Late-Onset Remitting Sensory Neuropathy

From the Neuromuscular Clinic, Department of Neurology, University Hospitals of

Leicester, Leicester, UK.

Abstract

We describe a previously asymptomatic patient who developed acute onset sensory

symptoms which gradually resolved spontaneously. Neurologic examination revealed

pes cavus, and motor nerve conduction studies were consistent with

Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of

a novel frameshift mutation within the transmembrane domain of the myelin

protein zero gene (Leu144fs). This case suggests that this novel myelin protein

zero mutation, as others reported previously, also results in a mild phenotype

with late-onset neurologic symptoms and may be accompanied by remitting sensory

disturbances.

Charcot-Marie-Tooth Disease due to Novel Myelin Protein Zero Mutation Presenting

as Late-Onset Remitting Sensory Neuropathy.

Simpson BS, Rajabally YA.

From the Neuromuscular Clinic, Department of Neurology, University Hospitals of

Leicester, Leicester, UK.

Abstract

We describe a previously asymptomatic patient who developed acute onset sensory

symptoms which gradually resolved spontaneously. Neurologic examination revealed

pes cavus, and motor nerve conduction studies were consistent with

Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of

a novel frameshift mutation within the transmembrane domain of the myelin

protein zero gene (Leu144fs). This case suggests that this novel myelin protein

zero mutation, as others reported previously, also results in a mild phenotype

with late-onset neurologic symptoms and may be accompanied by remitting sensory

disturbances.