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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

¹ Department of Medical Genetics, University of Tübingen, Germany
² Department of Human Genetics, University of Göttingen, Germany
³ Department of Neurology, University of Rostock, Germany
⁴ Department of Neurology, University of Bonn, Germany
⁵ Department of Neurology, University of Innsbruck, Austria
⁶ Department of Medical Genetics, Charité, Humboldt University Berlin, Germany
⁷ Department of Human Genetics, Ruhr-University Bochum, Germany
⁸ Institute of Human Genetics, University of Würzburg, Germany
⁹ Medizinisch-Genetisches Zentrum, München, Germany
¹⁰ Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
¹¹ Institute of Human Genetics and Anthropology, University of Freiburg, Germany
¹² Department of Neurology, Ruhr-University Bochum, Germany

Correspondence to:
P Bauer
MD, University of Tübingen, Department of Medical Genetics, Calwerstrasse 7, D 72076 Tübingen, Germany; peter.bauer@med.uni-tuebingen.de] Received 17 October 2003
Revised version received 20 November 2003
21 November 2003

Keywords: Huntington’s disease-like; SCA17; TBP

Abbreviations: ADCA, autosomal dominant cerebellar ataxia; HD, Huntington’s disease; HD-like, Huntington’s disease-like; JPH3, Junctophilin-3 gene; PRNP, prion protein; SCA, spinocerebellar ataxia; TBP, TATA binding protein

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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