Exome analysis of spinocerebellar ataxias

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We aimed to identify the novel causative genes of spinocerebellar ataxia (SCA) by analyzing the exomes of two autosomal recessive SCA (ARSCA), and two autosomal dominant SCA families. As the results, we identified a homozygous mutation of GeneX as the causative agent in one of the ARSCA families. Because GeneX was reported as causative gene for ARSCA-related disease during our study, we added the experiments and revealed that loss of enzymatic activity of GeneX product is the cause of the disease. In relation to this study, we corrected DNAs of 8 ARSCA-suspected families, and conducted exome sequencing for the index cases. We identified and reported the first Japanese case of SPG7 and myoclonus epilepsy with SCARB2 mutation.