Sporadic SCA8 mutation resembling corticobasal degeneration

Yasuhiko Baba, Ryan J. Uitti, Matthew J. Farrer, Zbigniew K Wszolek

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.

Original languageEnglish (US)
Pages (from-to)147-150
Number of pages4
JournalParkinsonism and Related Disorders
Volume11
Issue number3
DOIs
StatePublished - May 2005

Fingerprint

Mutation
Trinucleotide Repeats
Cerebellar Ataxia
Parkinsonian Disorders
Motor Neurons
Deglutition Disorders
Psychiatry
Phenotype
Spinocerebellar ataxia 8
Cognitive Dysfunction

Keywords

  • Clinical presentation
  • Corticobasal degeneration
  • Spinocerebellar ataxia type 8
  • Sporadic

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Neurology

Cite this

Sporadic SCA8 mutation resembling corticobasal degeneration. / Baba, Yasuhiko; Uitti, Ryan J.; Farrer, Matthew J.; Wszolek, Zbigniew K.

In: Parkinsonism and Related Disorders, Vol. 11, No. 3, 05.2005, p. 147-150.

Research output: Contribution to journalArticle

Baba, Yasuhiko ; Uitti, Ryan J. ; Farrer, Matthew J. ; Wszolek, Zbigniew K. / Sporadic SCA8 mutation resembling corticobasal degeneration. In: Parkinsonism and Related Disorders. 2005 ; Vol. 11, No. 3. pp. 147-150.
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