Clinical + electrophysiological studies of family with probable X-linked dominant CMT neuropathy and ptosis

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(This was recently indexed, hence the summer date of the original

publication - GG)

Abstract from Chang Gung Med J. 2004 Jul;27(7):489-500.

Clinical and electrophysiological studies of a family with probable

X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.

Wu T, Wang HL, Chu CC, Yu JM, Chen JY, Huang CC.

First Section, Department of Neurology, Chang Gung Memorial Hospital,

Taipei, Taiwan,

BACKGROUND: The X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX)

is a hereditary motor and sensory neuropathy linked to a variety of

mutations in the connexin32 (Cx32) gene. Clinical and genetic features

of CMTX have not previously been reported in Taiwanese.

METHODS: Clinical evaluations and electrophysiological studies were

carried out on 25 family members of a Taiwanese family group. Molecular

genetic analysis of the Cx32 gene was performed. A sural nerve biopsy

was obtained from 1 patient.

RESULTS: Nine patients had clinical features of X-linked dominant

inheritance and a moderate Charcot-Marie-Tooth (CMT) neuropathy

phenotype. Molecular genetic analysis showed no mutation of the Cx32

coding region, but revealed a G-to-A transition at position -215 of the

nerve-specific promoter P2 of the Cx32 gene. Ptosis is 1 clinical

manifestation of neuropathy in this probable CMTX family. Familial

hyperthyroidism is an additional independent feature of the family.

Electrophysiological and histological studies showed features of axonal

neuropathy. Multimodality evoked potential studies revealed normal

central motor and sensory conduction velocities.

CONCLUSIONS: The presence of ptosis in this family illustrates the

existence of clinical heterogeneity among related family members with

CMTX similar to that in CMT of autosomal inheritance.

Electrophysiological and histological findings revealed normal central

conduction and axonal neuropathy.