Journal of Neurology

, Volume 251, Issue 10, pp 1232–1234

Mutation at the SCA17 locus is not a common cause of primary dystonia

  • Kathrin Grundmann
  • Ulrike Laubis-Herrmann
  • Dirk Dressler
  • Juliane Vollmer-Haase
  • Peter Bauer
  • Manfred Stuhrmann
  • Thorsten Schulte
  • Ludger Schöls
  • Helge Topka
  • Olaf Riess
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-004-0520-2

Cite this article as:
Grundmann, K., Laubis-Herrmann, U., Dressler, D. et al. J Neurol (2004) 251: 1232. doi:10.1007/s00415-004-0520-2

Abstract.

Spinocerebellar ataxia type 17 (SCA17) is a dominant progressive neurodegenerative disorder, caused by a triplet repeat expansion within the TATA-binding protein. As well as ataxia and dementia, Parkinsonism and dystonia are common in SCA17. In some pedigrees focal dystonia in the absence of ataxia has been described as a main clinical feature. To evaluate the relevance of SCA17 mutations for primary dystonia, we examined the TBP repeat expansion in a series of 288 patients with different subtypes of primary torsion dystonia. We did not find any repeat sizes in the pathogenic range. We conclude that the SCA17 repeat expansion is not a common cause of familial and sporadic dystonia.

Key words

primary torsion dystonia spinocerebellar ataxia type 17 TATA binding protein 

Copyright information

© Steinkopff Verlag 2004

Authors and Affiliations

  • Kathrin Grundmann
    • 7
  • Ulrike Laubis-Herrmann
    • 1
  • Dirk Dressler
    • 2
  • Juliane Vollmer-Haase
    • 3
  • Peter Bauer
    • 7
  • Manfred Stuhrmann
    • 4
  • Thorsten Schulte
    • 5
  • Ludger Schöls
    • 5
  • Helge Topka
    • 6
  • Olaf Riess
    • 7
  1. 1.Dept. of NeurologyUniversity of TübingenTübingenGermany
  2. 2.Dept. of NeurologyUniversity of RostockRostockGermany
  3. 3.Dept. of NeurologyUniversity of MünsterMünsterGermany
  4. 4.Institute of Human GeneticsMedical School HannoverHannoverGermany
  5. 5.Institute of Human GeneticsMedical School HannoverHannoverGermany
  6. 6.Dept. of Neurology and Clinical NeurophysiologyAcademic Hospital Munich BogenhausenMunichGermany
  7. 7.Dept. of Medical GeneticsUniversity TübingenTübingenGermany