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Variability in nerve biopsy findings in a kinship with dominantly inherited charcot‐marie‐tooth disease
Author(s) -
van Weerden Tiemen W.,
Houthoff Hendrik Jan,
Sie Onggie,
Minderhoud Jan M.
Publication year - 1982
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.880050303
Subject(s) - hereditary motor and sensory neuropathy , tooth disease , sural nerve , remyelination , nerve biopsy , medicine , motor nerve , atrophy , disease , anatomy , pathology , sensory nerve , nerve conduction , myelin , neuroscience , biology , peripheral neuropathy , sensory system , central nervous system , endocrinology , diabetes mellitus
A large kinship with an autosomal hereditary‐motor‐and‐sensory‐neuropathy (HMSN) form of Charcot‐Marie‐Tooth disease (CMTD) is described. The affected members have the clinical features and reduced motor nerve conduction velocities of the hypertrophic type of CMTD, or HMSN I. Biopsies of the sural nerves of five affected members showed a large variability of demyelination and remyelination and onion bulb formation, independent of axonal atrophy and the severity of the disease. These findings are discussed in relation to recent literature.