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The pathology of Charcot‐Marie‐Tooth disease and related disorders
Author(s) -
Thomas P. K.,
King R. H. M.,
Small J. R.,
Robertson A. M.
Publication year - 1996
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/j.1365-2990.1996.tb01105.x
Subject(s) - disease , myelin , tooth disease , nerve biopsy , pathology , pathological , molecular pathology , genetic heterogeneity , medicine , biology , neuroscience , genetics , gene , phenotype , peripheral neuropathy , central nervous system , endocrinology , diabetes mellitus
Approximately a quarter of a century ago, the disorders originally designated as Charcot‐Marie‐Tooth disease and Dejerine‐Sottas disease were shown by combined clinical, electrophysiological and nerve biopsy studies to be genetically complex. In pathological terms they could be broadly classified into demyelinating neuropathies and axonopathies. Advances in the molecular genetics of these disorders, particularly for those with a demyelinating basis, have recently produced substantial new insights. The identification of mutations in genes for myelin proteins has provided the opportunity for investigating the precise mechanisms of these neuropathies, including the use of spontaneous and genetically engineered animal models.