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Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

Authors

  • Anne Roubergue MD,

    Corresponding author
    1. Departments of Neurology and Neurophysiology, Hôpital Saint-Antoine, AP–HP, Paris, France
    2. Department of Neuropediatrics, Hôpital Armand Trousseau, AP–HP, Paris, France
    • Service de neurologie, Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75571 Paris Cedex 12, France
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  • Emmanuelle Apartis MD,

    1. Departments of Neurology and Neurophysiology, Hôpital Saint-Antoine, AP–HP, Paris, France
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  • Marie Vidailhet MD,

    1. Departments of Neurology and Neurophysiology, Hôpital Saint-Antoine, AP–HP, Paris, France
    2. INSERM U289, Paris, France
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  • Cyril Mignot MD,

    1. Department of Neuropediatrics, Hôpital Armand Trousseau, AP–HP, Paris, France
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  • Anna Tullio-Pelet PhD,

    1. Unité de Recherche sur les Handicaps Génétiques de l'Enfant, INSERM U393 and the Department of Genetics, Hôpital Necker - Enfants Malades, AP–HP, Paris, France
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  • Stanislas Lyonnet MD, PhD,

    1. Unité de Recherche sur les Handicaps Génétiques de l'Enfant, INSERM U393 and the Department of Genetics, Hôpital Necker - Enfants Malades, AP–HP, Paris, France
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  • Thierry Billette De Villemeur MD

    1. Department of Neuropediatrics, Hôpital Armand Trousseau, AP–HP, Paris, France
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  • A videotape accompanies this article.

Abstract

We report on the case of a 25-year-old woman with triple A syndrome and gene mutation, who, during the long follow-up period of 23 years, developed myoclonus of the face and the upper limbs (with normal brain magnetic resonance spectroscopy) and widespread digestive dysmotility, involving small bowels and gall bladder. These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome. © 2003 Movement Disorder Society

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