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

Hideshi Kawakami; Ken Inoue; Ichiro Sakakihara; Shigenobu Nakamura

doi:10.1212/wnl.59.6.923

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

Neurology. 2002 Sep 24;59(6):923-6. doi: 10.1212/wnl.59.6.923.

Authors

Hideshi Kawakami¹, Ken Inoue, Ichiro Sakakihara, Shigenobu Nakamura

Affiliation

¹ Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan. [email protected]

PMID: 12297581
DOI: 10.1212/wnl.59.6.923

Abstract

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.

Publication types

Case Reports

MeSH terms

Adolescent
Central Nervous System Diseases / diagnostic imaging
Central Nervous System Diseases / genetics*
Central Nervous System Diseases / physiopathology
Cerebellum / diagnostic imaging
Cerebellum / physiopathology
Charcot-Marie-Tooth Disease / diagnostic imaging
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / physiopathology
Female
Humans
Male
Mutation / genetics*
Pedigree
Radionuclide Imaging
Sequence Analysis, DNA