Last update 08 May 2025

Spinocerebellar Ataxia 12

Basic Info

Synonyms
SCA12, SCA12 Spinocerebellar Ataxia 12, SPINOCEREBELLAR ATAXIA 12
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Introduction
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.

Analysis

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