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3.
Mov Disord ; 19(3): 344-6, 2004 Mar.
Article in English | MEDLINE | ID: mdl-15022193

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.


Subject(s)
Adrenal Gland Diseases/complications , Adrenal Gland Diseases/genetics , Esophageal Achalasia/complications , Esophageal Achalasia/genetics , Gastrointestinal Diseases , Gastrointestinal Motility/physiology , Lacrimal Apparatus Diseases/complications , Lacrimal Apparatus Diseases/genetics , Myoclonus/complications , Point Mutation/genetics , Proteins/genetics , Adult , Electromyography , Esophageal Achalasia/physiopathology , Female , Gastrointestinal Diseases/complications , Gastrointestinal Diseases/genetics , Gastrointestinal Diseases/physiopathology , Humans , Nerve Tissue Proteins , Nuclear Pore Complex Proteins , Syndrome
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