Letter abstract
Nature Genetics 39, 80 - 85 (2006)
Published online: 10 December 2006 | doi:10.1038/ng1927
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
François Gros-Louis1, Nicolas Dupré1,2, Patrick Dion1, Michael A Fox3, Sandra Laurent1, Steve Verreault2, Joshua R Sanes3, Jean-Pierre Bouchard2 & Guy A Rouleau1
The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias1. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia2, ataxia with vitamin E deficiency3, ataxia telangiectasia4, recessive spastic ataxia of Charlevoix-Saguenay5 and ataxia with oculomotor apraxia type 1 (refs. 6,7) and type 2 (ref. 8). Nonetheless, genes remain unidentified for most recessive ataxias. Additionally, pure cerebellar ataxias, which represent up to 20% of all ataxias, remain poorly studied with only two causative dominant genes being described: CACNA1A (ref. 9) and SPTBN2 (ref. 10). Here, we report a newly discovered form of recessive ataxia in a French-Canadian cohort and show that SYNE1 mutations are causative in all of our kindreds, making SYNE1 the first identified gene responsible for a recessively inherited pure cerebellar ataxia.
- Centre for the Study of Brain Diseases, Centre Hospitalier de l'Université de Montréal and Centre Hospitalier Universitaire – Ste-Justine, Université de Montréal, Montréal, Quebec, H2L 4M1, Canada.
- Faculty of Medicine, Laval University, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec – Enfant-Jesus Hospital, Quebec City, Quebec, G1J 1Z4, Canada.
- Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA.
Correspondence to: Guy A Rouleau1 e-mail: guy.rouleau@umontreal.ca
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