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A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
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