Mutation at the SCA17 locus is not a common cause of parkinsonism

Parkinsonism Relat Disord. 2003 Aug;9(6):317-20. doi: 10.1016/s1353-8020(03)00027-0.

Abstract

Spinocerebellar ataxia (SCA) 17 is a dominant, progressive, neurodegenerative disorder. The disease is caused by a triplet repeat expansion mutation within TATA-binding protein (TBP). Ataxia, dementia, parkinsonism and dystonia are common features. We have previously shown in several pedigrees that SCA-2 and SCA-3 can cause both parkinsonism and typical Parkinson's disease in the absence of prominent ataxia; a finding which has been confirmed by others. Given these previous findings and the description of parkinsonism as a common feature of SCA-17 we examined this locus in a series of probands from families with 2 or more members affected with parkinsonism (n=51) and a group of sporadic parkinsonism patients (n=59). We did not find any repeat sizes in the pathogenic range. The repeats we observed ranged from 29 to 41 (mean 36.8; median 37). We conclude that SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Gene Frequency
  • Humans
  • Middle Aged
  • Parkinsonian Disorders / ethnology
  • Parkinsonian Disorders / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • TATA-Box Binding Protein / genetics*
  • Trinucleotide Repeat Expansion*

Substances

  • TATA-Box Binding Protein