SCA5

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Patients with spinocerebellar ataxia 5 present with a very slowly progressive cerebellar ataxia with frequent gaze-evoked nystagmus and, less frequently, a decreased vibration sense, tremor, and facial myokymia with severe cerebellar global atrophy. To date, there are only three large Caucasian families described with three different mutations identified in the β-III spectrin gene.

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