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Inflammatory demyelination in a patient with CMT1A
Author(s) -
Vital Anne,
Vital Claude,
Lagueny Alain,
Ferrer Xavier,
RibièreBachelier Catherine,
Latour Philippe,
Petry Klaus G.
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.10404
Subject(s) - gene duplication , demyelinating disease , medicine , pathology , macrophage , genetic predisposition , chronic inflammatory demyelinating polyneuropathy , disease , biopsy , immunology , gene , genetics , biology , antibody , in vitro
We report a case of Charcot‐Marie‐Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage‐associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds. Muscle Nerve 28: 373–376, 2003