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Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

Hereditary spinocerebellar ataxias (SCAs) are classified as autosomal dominant, autosomal recessive, X-linked, or mitochondrial. Mutations in SYNE1 are responsible for a group of recessively inherited cerebellar ataxias in French-Canadian families, known as spinocerebellar ataxia, autosomal recessive 8 (SCAR8).1 Patients with SCAR8 were reported to show late-onset ataxia with slow progression and significant dysarthria as well as cerebellar atrophy.1,2 Here, we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia and their unique clinical and genetic characteristics.