CMT1A inflammatory demyelination research from France

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Abstract from Muscle Nerve. 2003 Sep;28(3):373-6.

Inflammatory demyelination in a patient with CMT1A.

Vital A, Vital C, Lagueny A, Ferrer X, Ribiere-Bachelier C, Latour P,

Petry KG.

Department of Neuropathology, BP42, Victor Segalen University, 146 rue

Leo-Saignat, 33076 Bordeaux, France.

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.