SCA12 (Spinocerebellar Ataxia Type 12)

Detect repeat expansions in SCA12 gene Typical Presentation: Tremor of arms and head, mild ataxia, dysmetria, hyperreflexia. Indications for testing: Clinical features consistent with those of Ataxia

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia.