The patient who has ataxia, pes cavus, dysarthria, impaired cognition, onset at ages 6–40, and motor neuropathy on EMG suggests that it is compatible with “Spinocerebellar ataxia, autosomal recessive 8” caused by homozygous mutation in the SYNE1 gene [28]. The gene discussed is SYNE1; the disease is cerebellar ataxia.