Spinocerebellar ataxia type 20

Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3.

Abstract

Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly progressive dominantly inherited disorder so far reported in a single Anglo-Celtic family from Australia. It is characterized by dentate calcification from an early stage of the illness. Dysarthria without ataxia is the first symptom in the majority - an unusual feature amongst the SCAs. In addition to ataxia, examination often reveals spasmodic dysphonia and palatal tremor, but the syndrome is otherwise fairly pure. The responsible genetic abnormality has been tentatively identified as a 260-kb duplication in the pericentric region of chromosome 11, but confirmation will necessarily await description of further families.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Diagnosis, Differential
  • Humans
  • Neuroimaging
  • Spectrin / genetics*
  • Speech Disorders / etiology
  • Spinocerebellar Ataxias* / complications
  • Spinocerebellar Ataxias* / genetics
  • Spinocerebellar Ataxias* / pathology

Substances

  • SPTBN2 protein, human
  • Spectrin

Supplementary concepts

  • Spinocerebellar ataxia 20