Orphanet: Spinocerebellar ataxia type 12
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Spinocerebellar ataxia type 12

Disease definition

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:98762

Classification level: Disorder
  • Synonym(s):
    • SCA12
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G11.2
  • OMIM: 604326
  • UMLS: C1858501
  • MeSH: -
  • GARD: 10476
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown. Approximately 40 families have been reported.

Clinical description

The age of symptomatic onset ranges from 8 to 55 years with most patients presenting in the 4th decade.

Etiology

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

Prognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected.

Expert reviewer(s):  Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.