CMT X/HSMN Research News - from Japan

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Abstract from Muscle Nerve. 2003 Nov;28(5):623-5.

X-linked motor and sensory neuropathy with pyramidal signs and cerebral

white matter lesions.

Goto H, Matsuo H, Ohnishi A, Fukudome T, Shibuya N.

Department of Neurology, Kawatana National Hospital, Shimogumi-gou

2005-1, Kawatana, Higashisonogi-gun, Nagasaki,

859-3615, Japan.

We report two brothers with hereditary motor and sensory neuropathies

and pyramidal signs. Electrophysiological evaluation revealed

polyneuropathy and involvement of the central motor, somatosensory, and

auditory pathways. Brain magnetic resonance imaging studies showed

diffuse white matter lesions, and sural nerve biopsy identified a

reduction in the large myelinated nerve fibers. The patients' mother and

sister exhibited similar, but milder neurologic findings suggesting that

the genetic defect may be X-linked; however, a point mutation in the

connexin 32 gene was negative.