New Type X Mutation + CNS Impairment Research from Japan

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1: Neurology 2002 Sep 24;59(6):923-6

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with

CNS impairment.

Kawakami H, Inoue K, Sakakihara I, Nakamura S. Third Department of

Internal Medicine, Hiroshima University School of Medicine, Japan.

The authors describe a 16-year-old boy with severe muscular atrophy and

signs of peripheral neuropathy compatible with Charcot-Marie-Tooth

disease. Abnormalities in the cerebellum and central somatosensory

pathway were also noted. Gene analysis revealed a novel gross insertion

mutation in exon 2 of the connexin32 gene along with a 21-base pair

duplication resulting in a seven-amino acid insertion in the first

extracellular loop of the protein.