Article Text

Download PDFPDF
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype
  1. P Bauer1,
  2. F Laccone2,
  3. A Rolfs3,
  4. U Wüllner4,
  5. S Bösch5,
  6. H Peters6,
  7. S Liebscher1,
  8. M Scheible1,
  9. J T Epplen7,
  10. B H F Weber8,
  11. E Holinski-Feder9,
  12. H Weirich-Schwaiger10,
  13. D J Morris-Rosendahl11,
  14. J Andrich12,
  15. O Riess1
  1. 1Department of Medical Genetics, University of Tübingen, Germany
  2. 2Department of Human Genetics, University of Göttingen, Germany
  3. 3Department of Neurology, University of Rostock, Germany
  4. 4Department of Neurology, University of Bonn, Germany
  5. 5Department of Neurology, University of Innsbruck, Austria
  6. 6Department of Medical Genetics, Charité, Humboldt University Berlin, Germany
  7. 7Department of Human Genetics, Ruhr-University Bochum, Germany
  8. 8Institute of Human Genetics, University of Würzburg, Germany
  9. 9Medizinisch-Genetisches Zentrum, München, Germany
  10. 10Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
  11. 11Institute of Human Genetics and Anthropology, University of Freiburg, Germany
  12. 12Department of Neurology, Ruhr-University Bochum, Germany
  1. Correspondence to:
 P Bauer
 MD, University of Tübingen, Department of Medical Genetics, Calwerstrasse 7, D 72076 Tübingen, Germany;

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Huntington’s disease (HD) is characterized by movement abnormalities and psychiatric symptoms. Prominent features include choreiform movements, dysarthria, ataxia, depression, dementia, and personality changes. The disease usually manifests during the third or fourth decade of live and progresses with dysphagia and subsequent cachexia causing death some 20 years later. Neuropathologically, the disease is characterized by atrophy of the caudate and putamen and, to a lesser extent, of the cortex, globus pallidum, thalamus, subthalamic region, and substantia nigra.1

A CAG repeat expansion in the HD gene resulting in an expanded polyglutamine chain in the huntingtin protein was identified as the major cause of HD.2 Phenocopies of HD have been described and designated as Huntington disease-like (HD-like). These disorders are genetically heterogeneous. In a consanguineous family of Saudi Arabian ancestry a juvenile-onset choreiform disease resembling HD was described, inherited as an autosomal recessive trait. The chromosomal mapping might point to 4p15.3, but still is controversial.3,4 In senile chorea, CAG repeat expansions in the HD gene have been excluded but a gene locus for this HD-like condition is not known.5 Several families have been reported with clinical features closely resembling HD and autosomal dominant inheritance. Among these, an early-onset non-progressive chorea with benign course has been associated with mutations in TITF-1 mapped …

View Full Text