Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

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.
Authors	François Gros-Louis, Nicolas Dupré, Patrick Dion, Michael A Fox, Sandra Laurent, Steve Verreault, Joshua R Sanes, Jean-Pierre Bouchard, Guy A Rouleau
Journal	Nature genetics (Nat Genet) Vol. 39 Issue 1 Pg. 80-5 (Jan 2007) ISSN: 1061-4036 [Print] United States
PMID	17159980 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
Chemical References	Cytoskeletal Proteins Nerve Tissue Proteins Nuclear Proteins SYNE1 protein, human
Topics	Adult Aged Amino Acid Sequence Animals Base Sequence Cerebellar Ataxia (genetics) Cerebellum (metabolism) Chromosome Mapping Cytoskeletal Proteins DNA Mutational Analysis Female Genes, Recessive Genetic Testing Humans Male Mice Middle Aged Molecular Sequence Data Mutation Nerve Tissue Proteins (genetics, metabolism) Nuclear Proteins (genetics, metabolism) Quebec

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