C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Spinocerebellar ataxias (SCAs) are characterized by progressive cerebellar ataxia with or without non-cerebellar symptoms and classified as autosomal dominant, autosomal recessive, X-linked and mitochondrial. Spinocerebellar ataxia, autosomal recessive 8 (SCAR8) is caused by a mutation in SYNE1 and originally reported as late-onset cerebellar ataxia with few extracerebellar symptoms in French-Canadian families [1]. Subsequent report [2] and multisenter studies [3,4] have described motor neuron disease (MND), mental retardation, autonomic nervous system dysfunction and extra-nervous system symptoms in patients with SCAR8, expanding its clinical spectrum.

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