An autosomal recessive ataxia caused by SYNE1 mutations
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Hereditary ataxias are primarily distinguished, diagnosed and classified according to their genetic basis. In a recent study, Gros-Louis et al. aimed to identify the gene underlying an autosomal recessive ataxia found in a group of 26 families from a region of Quebec, Canada. The cohort's 53 affected individuals displayed similar clinical features and cerebellar atrophy with no cortical or brainstem involvement, indicating a pure cerebellar ataxia.
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