Huntington's disease-like and ataxia syndromes: Identification of a family with a de novo SCA17/TBP mutation

Sara Bech, Thor Petersen, Anne Nørremølle, Albert Gjedde, Lise Ehlers, Hans Eiberg, Lena E. Hjermind, Lis Hasholt, Erik Lundorf, Jørgen E. Nielsen

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


The autosomal dominant spinocerebellar ataxias, commonly referred to as SCAs, are clinically and genetically heterogeneous neurodegenerative disorders. Twenty-eight genetic subtypes have been identified, of which 7 are caused by expansion of a CAG trinucleotide repeat that encodes a polyglutamine tract in the respective proteins. SCA17 is caused by a CAG/CAA repeat expansion in the TATA box-binding protein-gene (TBP). In some cases the clinical phenotype of SCA17 overlaps that of Huntington's disease (HD), hence the use of the term Huntington's disease-like. We screened 89 patients with a Huntington's disease-like phenotype without the HD-gene mutation and 178 patients with genetically unclassified cerebellar ataxia for the mutation in TBP. A 33-year old woman presenting with an HD like phenotype with a de novo 54 CAG/CAA repeat expansion was identified. Her normal allele included 38 repeats. The patient's mother and father both carried normal range repeats, 38/38 and 33/39 respectively. Analysis of the repeat structures revealed that the expansion had occurred upon expansion of the longer paternal allele. We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases.

Original languageEnglish (US)
Pages (from-to)12-15
Number of pages4
JournalParkinsonism and Related Disorders
Issue number1
StatePublished - Jan 1 2010


  • HDL
  • HDL4
  • Putaminal rim hyperintensity
  • SCA
  • SCA17
  • TBP

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology


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