Contents

Search

spinocerebellar ataxia type 17 (SCA-17)

Epidemiology: - identified in 4 Japanese families Genetics: 1) autosomal dominant 2) CAG trinculeotide repeat expansion in gene for TATA-binding protein 3) 4-35 repeats is normal 4) 37 to >200 repeats in SCA17 Clinical manifestations: 1) onset 19-48 years of age 2) cerebellar ataxia 3) dementia 4) progresses to bradykinesia, dysmetria, dysdiadokokinesis, hyperreflexia 5) eye movements are normal Laboratory: - TBP gene CAG repeats Radiology: - magnetic resonance imaging shows diffuse cortical atrophy, cerebellar atrophy

Related

TATA-box-binding protein; TATA sequence-binding protein; TATA-binding factor; TATA-box factor; transcription initiation factor TFIID TBP subunit; p38TFIID; p38tau (TBP, GTF2D1, TF2D, TFIID)

General

polyglutamine expansion disorder spinocerebellar ataxia (SCA)

Database Correlations

OMIM correlations

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+17