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Spinocerebellar ataxia type 12
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. Associated pyramidal and extrapyramidal signs and dementia have been reported.
ORPHA:98762Classification level: Disorder
Prevalence is unknown. Approximately 40 families have been reported.
The age of symptomatic onset ranges from 8 to 55 years with most patients presenting in the 4th decade.
Like SCA8 the pathogenesis of SCA12 seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32.
Prognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected.
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