The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

OBJECTIVE:To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders. METHODS:A total of 14 consecutive adults with A-T were included at 2 tertiary adult movement disorders centers and compared to 53 typical patients with A-T. Clinical evaluation, ne...

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Veröffentlicht in:	Neurology 2014-09, Vol.83 (12), p.1087-1095
Hauptverfasser:	Méneret, Aurélie, Ahmar-Beaugendre, Yara, Rieunier, Guillaume, Mahlaoui, Nizar, Gaymard, Bertrand, Apartis, Emmanuelle, Tranchant, Christine, Rivaud-Péchoux, Sophie, Degos, Bertrand, Benyahia, Baya, Suarez, Felipe, Maisonobe, Thierry, Koenig, Michel, Durr, Alexandra, Stern, Marc-Henri, Dubois d’Enghien, Catherine, Fischer, Alain, Vidailhet, Marie, Stoppa-Lyonnet, Dominique, Grabli, David, Anheim, Mathieu
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset alpha-Fetoproteins Ataxia Telangiectasia - epidemiology Ataxia Telangiectasia - genetics Ataxia Telangiectasia - physiopathology Ataxia Telangiectasia Mutated Proteins - genetics Chromosomal Instability - genetics Cohort Studies Disease Progression Dysarthria - genetics Dysarthria - physiopathology Dystonia - genetics Dystonia - physiopathology Eye Movement Measurements Female Genetic Pleiotropy Humans Immunoglobulins - deficiency Life Sciences Male Mobility Limitation Movement Disorders - genetics Movement Disorders - physiopathology Mutation, Missense Myoclonus - genetics Myoclonus - physiopathology Ocular Motility Disorders - genetics Ocular Motility Disorders - physiopathology Phenotype Severity of Illness Index Young Adult
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