Choreo-acanthocytosis |
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Authors: | X Ferrer J Julien C Vital A Lagueny F Tison |
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Affiliation: | Service de Neurologie, H?pital du Haut-Levêque, Pessac. |
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Abstract: | We report a case of choreo-acanthocytosis in a 33 year-old man with mild chorea of the limbs but no involuntary movements of the face, areflexia, epilepsy and personality changes. Acanthocytosis was 10-20% and creatine-phosphokinase levels were raised. Electrophysiological data were consistent with lower motor neurone dysfunction. Muscle biopsy revealed changes typical of neurogenic atrophy. Nerve biopsy showed a severe loss of large myelinated axons. Electron microscopic examination was in favour of primary axonal damage affecting mainly myelinated fibers and only slightly unmyelinated fibers. |
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