Isolation of causative genes for recessive spinocerebellar ataxia

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Autosomal recessive cerebellar ataxias(ARCAs) are heterogeneous disorders clinically associated with cerebellar ataxias. In this study, we performed the whole exome sequencing analysis combined with homozygosity mapping and linkage analysis, to identify causative mutations from three Japanese families of ARCA. As a result, a homozygous missense mutation in SYT14, encoding synaptotagmin XIV, was identified in one of the families. We showed that the above methods could successfully identify a causative mutation from small family.