Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia |
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Authors: | Gros-Louis François Dupré Nicolas Dion Patrick Fox Michael A Laurent Sandra Verreault Steve Sanes Joshua R Bouchard Jean-Pierre Rouleau Guy A |
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Affiliation: | Centre for the Study of Brain Diseases, Université de Montréal, Montréal, Quebec, H2L 4M1, Canada. |
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Abstract: | 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. |
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