Identification of a novel gene responsible for spinocerebellar ataxia and therapy for ataxia

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To reveal the molecular pathomechanism and identify a novel gene responsible for spinocerebellar ataxia, positional cloning of SCA families with unknown etiology was performed. A novel genetic defect causing characteristic clinical features with ataxia complicated by motor neuron involvement had been discovered from this study as a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene. The specific molecular effect of mutated transcripts might be related to RNA gain-of-function mechanism.