Autosomal dominant hereditary disorder
Spinocerebellar ataxia
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Spinocerebellar ataxia type 12 (disorder)
Spinocerebellar ataxia type 12
Rare disease with manifestations of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. Prevalence is unknown. Approximately 40 families have been reported. The pathogenesis 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.
spinocerebellaire ataxie type 12
SCA12
Id719208005
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified