CMT X in a Severely Affected Female Patient with Scattered Lesions in Cerebral W

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Intern Med. 2007;46(13):1023-7.

X-linked Charcot-Marie-Tooth Disease (CMTX) in a Severely Affected

Female Patient with Scattered Lesions in Cerebral White Matter.

Basri R, Yabe I, Soma H, Matsushima M, Tsuji S, Sasaki H.

Department of Neurology, Hokkaido University Graduate School of

Medicine.

Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative

disorder of the peripheral nervous system that results in slowly

progressive distal muscle weakness, atrophy and loss of

proprioception in the affected areas. X-linked CMT (CMTX) has been

localized to the pericentric region of the X chromosome.

CMTX neuropathy is usually associated with mutations in exon 2 of

the gap junction protein beta1 (GJB1) gene. GJB1 is a gap junction

protein expressed in various cells including oligodendrocytes,

astrocytes and myelinating schwann cells.

Here, we report a female case of CMTX with a GJB1 mutation. The

patient was severely clinically affected and exhibited both the

features of demyelination and axonopathy. This is the first female

patient with CMTX who showed permanent atypical scattered lesions in

cerebral white matter of the brain on T2-weighted magnetic resonance

images (MRI), which is very rare. The existence of a female patient

with severe clinical symptoms may show that gain of function

mechanism also leads to the disorders seen in these patients.