J Neurol Sci. 1990 Sep;98(2-3):139-48.

Hereditary pressure-sensitive neuropathy: demonstration of "tomacula" in motor nerve fibers.

Oda K, Miura H, Shibasaki H, Endo C, Kakigi R, Kuroda Y, Tanaka K.

Source

National Institute of Neuroscience, NCNP, Tokyo, Japan.

Abstract

By studying intramuscular nerves in 2 patients from 2 families with hereditary pressure-sensitive neuropathy (HPSN), the occurrence of abnormal thickening of myelin sheaths ("tomacula") was for the first time demonstrated in motor nerve fibers. Furthermore, the tomacula were found to line up on certain axons instead of being randomly distributed. These results indicate that the recurrent mononeuropathies of HPSN arise from an underlying asymptomatic motor and sensory polyneuropathy. It is also suggested that some signals emanating from the axons might be related to the formation of tomacula on the basis of the genetically determined myelination disorder.

PMID:: 1700806; [PubMed - indexed for MEDLINE]

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[Hereditary neuropathy with liability to pressure palsies (tomaculous neuropathy). Clinical, electrophysical and molecular study of two affected families]. [Rev Neurol. 2000]
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