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Spinocerebellar ataxia type 21

Orpha number ORPHA98773
Synonym(s) SCA21
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Adolescent
ICD-10
  • G11
ICD-O -
OMIM
UMLS
  • C1843891
MeSH
  • C537200
MedDRA -

Summary

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date.

Mean age of onset is 17.4 years and is relatively early compared to most type I ADCAs. Individuals in successive generations tend to have earlier ages of onset. Parkinsonism was not responsive to L-dopa and magnetic resonance imaging (MRI) revealed cerebellar and brainstem atrophy.

SCA21 maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified.

There is insufficient clinical data to draw conclusions concerning prognosis.

Expert reviewer(s)

  • Dr Shinsuke FUJIOKA
  • Dr N WHALEY
  • Dr Zbigniew WSZOLEK

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Detailed information

Summary information
Review article
  • EN (2011)
Clinical genetics review
  • EN (2014)
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