Inflammatory demyelination in CMT1A patient - Research from France

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Abstract from Muscle and Nerve June 2003

Inflammatory demyelination in a patient with CMT1A

Anne Vital, MD, PhD 1 2 *, Claude Vital, MD 1 2, Alain Lagueny, MD 2 3,

Xavier Ferrer, MD 3, Ribière-Bachelier, MD 3, Philippe Latour,

MD 4, Klaus G. Petry, PhD 2

1Department of Neuropathology, BP42, Victor Segalen University, 146 rue

Léo-Saignat, 33076 Bordeaux, France, 2Equipe d'Accueil 2966

Neurobiologie des Affections de la Myéline, Victor Segalen University,

Bordeaux, France 3Department of Neurology, Victor Segalen University,

Bordeaux, France 4Molecular Genetic Laboratory, Antiquaille Hospital,

Lyon, France

Funded by: Association Française contre les Myopathies (AFM)

Abstract

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.