label: Spinocerebellar Ataxia Type 12
label_lc: spinocerebellar ataxia type 12
description: An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.