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X‐linked motor and sensory neuropathy with pyramidal signs and cerebral white matter lesions
Author(s) -
Goto Hirofumi,
Matsuo Hidenori,
Ohnishi Akio,
Fukudome Takayasu,
Shibuya Noritoshi
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10442
Subject(s) - white matter , somatosensory system , connexin 32 , sural nerve , medicine , somatosensory evoked potential , sensory system , magnetic resonance imaging , pathology , polyneuropathy , neuroscience , hyperintensity , anatomy , psychology , connexin , biology , anesthesia , gap junction , radiology , intracellular , microbiology and biotechnology
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. Muscle Nerve 28: 623–625, 2003