Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
Identifieur interne : 000430 ( France/Analysis ); précédent : 000429; suivant : 000431Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
Auteurs : Anne Roubergue [France] ; Emmanuelle Apartis [France] ; Marie Vidailhet [France] ; Cyril Mignot [France] ; Anna Tullio-Pelet [France] ; Stanislas Lyonnet [France] ; Thierry Billette De Villemeur [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-03.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adrenal Gland Diseases (complications), Adrenal Gland Diseases (genetics), Adult, Digestive system, Electromyography, Esophageal Achalasia (complications), Esophageal Achalasia (genetics), Esophageal Achalasia (physiopathology), Female, Gastrointestinal Diseases (complications), Gastrointestinal Diseases (genetics), Gastrointestinal Diseases (physiopathology), Gastrointestinal Motility (physiology), Humans, Lacrimal Apparatus Diseases (complications), Lacrimal Apparatus Diseases (genetics), Mutation, Myoclonus, Myoclonus (complications), Nerve Tissue Proteins, Nervous system diseases, Nuclear Pore Complex Proteins, Point Mutation (genetics), Proteins (genetics), Syndrome, digestive dysmotility, myoclonus, triple A syndrome.
- MESH :
- chemical , genetics : Proteins.
- chemical : Nerve Tissue Proteins, Nuclear Pore Complex Proteins.
- complications : Adrenal Gland Diseases, Esophageal Achalasia, Gastrointestinal Diseases, Lacrimal Apparatus Diseases, Myoclonus.
- genetics : Adrenal Gland Diseases, Esophageal Achalasia, Gastrointestinal Diseases, Lacrimal Apparatus Diseases, Point Mutation.
- physiology : Gastrointestinal Motility.
- physiopathology : Esophageal Achalasia, Gastrointestinal Diseases.
- Adult, Electromyography, Female, Humans, Syndrome.
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
Url:
DOI: 10.1002/mds.10660
Affiliations:
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These features, not previously described, illustrate an extension of the cerebral and digestive neurological involvement in this syndrome. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name></noRegion><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name><name sortKey="De Villemeur, Thierry Billette" sort="De Villemeur, Thierry Billette" uniqKey="De Villemeur T" first="Thierry Billette" last="De Villemeur">Thierry Billette De Villemeur</name><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Tullio Elet, Anna" sort="Tullio Elet, Anna" uniqKey="Tullio Elet A" first="Anna" last="Tullio-Pelet">Anna Tullio-Pelet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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