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spinocerebellar ataxia type 21 (SCA-21)

Epidemiology: - single French family Genetics: - linked to gene on chromosome 7p21.3-p15.1 Clinical manifestations: 1) cerebellar ataxia 2) akinesia 3) dyarthria, hyporeflexia, mile cognitive impairment (variable)

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM 607454 Entrez Gene 170545

References

  1. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: 16613893
  2. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: 15895563
  3. UpToDate version 14.2
  4. PubMed Search PubMed search: spinocerebellar+ataxia+type+21