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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia
Nature Genetics, Volume 39, No. 1, Year 2007
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Description
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 ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin E deficiency, ataxia telangiectasia, recessive spastic ataxia of Charlevoix-Saguenay 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. © 2006 Nature Publishing Group.
Authors & Co-Authors
Dupré, Nicolas
Canada, Montreal
University of Montreal
Canada, Quebec
Université Laval
Dion, Patrick A.
Canada, Montreal
University of Montreal
Laurent, Sandra B.
Canada, Montreal
University of Montreal
Sanes, Joshua R.
United States, Cambridge
Harvard University
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Rouleau, Guy Armand
Canada, Montreal
University of Montreal
Statistics
Citations: 316
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1038/ng1927
ISSN:
15461718
Research Areas
Genetics And Genomics
Study Design
Cohort Study