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Autosomal Dominant Spinocerebellar Ataxias: An Asian Perspective

Published online by Cambridge University Press:  02 December 2014

E.K. Tan
E.K. Tan*
Affiliation:
Department of Neurology, Singapore General Hospital, Singapore
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Abstract

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Autosomal dominant cerebellar ataxias, frequently referred to as spinocerebellar ataxias (SCAs) have been under intense scientific research limelight since expansions of coded CAG trinucleotide repeats were demonstrated to cause several dominantly inherited SCAs. The number of new SCA loci has expanded dramatically in recent years. At least ten genes have been identified for SCAs 1, 2, 3, 6, 7, 8, 10, 12, 17, dentatorubral-pallidoluysian atrophy (DRPLA), and six loci responsible for SCAs 4, 5, 11,13, 14, and 16 have been mapped. Genetic testing is essential for diagnosis due to the overlapping and varied phenotypic features of the different SCAs. While there is no effective treatment available, genetic counseling is important for addressing the many ethical, social, legal, and psychological issues facing SCA patients. Researchers have recently provided valuable information on the pathogenesis of the disease and hopefully a cure will be available in the near future.

Résumé:

RÉSUMÉ:

Les ataxies cérébelleuses autosomiques dominantes, souvent nommées ataxies spino-cérébelleuses (ASCs), ont suscité beaucoup d'intérêt dans le monde scientifique depuis la découverte qu'une expansion des répétitions du trinucléotide CAG est la cause de plusieurs ASCs dont l'hérédité est dominante. Le nombre de nouveaux loci ASC a augmenté rapidement dans les dernières années. Au moins dix gènes ont été identifiés pour les ASCs 1, 2, 3, 6, 7, 8, 10, 12, 17 et l'atrophie dentatorubro-pallidoluysienne (ADRPL) et six loci responsables des ASCs 4, 5, 11, 13, 14 et 16 ont été cartographiés. Le test génétique est essentiel au diagnostic parce que les caractéristiques phénotypiques des différentes ASCs sont variées et se recoupent. Bien qu'aucun traitement efficace ne soit disponible, le conseil génétique est important pour examiner les aspects éthiques, sociaux, légaux et psychologiques auxquels les patients sont confrontés. Les chercheurs ont fourni des informations précieuses sur la pathogenèse de la maladie et il est à espérer qu'un traitement soit bientôt disponible.

Type
Exchange Article
Information
Canadian Journal of Neurological Sciences , Volume 30 , Issue 4 , November 2003 , pp. 361 - 367
Copyright
Copyright © The Canadian Journal of Neurological 2003

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