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Neuropediatrics 2002; 33(2): 90-92
DOI: 10.1055/s-2002-32367
Short Communication

Georg Thieme Verlag Stuttgart · New York

Chorea Huntington: A Rare Case with Childhood Onset

M. Gencik1 , C. Hammans1 , H. Strehl2 , N. Wagner2 , J. T. Epplen1
  • 1 Molecular Human Genetics, Ruhr-University Bochum, Germany
  • 2 Pediatric Clinic, Städt. Kliniken Dortmund, Germany
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Publication History

Publication Date:
20 June 2002 (online)

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Abstract

Chorea Huntington (CH) is a dominantly inherited, neurodegenerative disease usually with adult onset. The course of CH is characterized by movement disturbances, psychiatric symptoms and it may lead to dementia. Typically death occurs after 10 to 20 years of CH duration. Invariably, the underlying mutation concerns an expansion of a polymorphic (CAG)n stretch in the huntingtin gene. Statistically, larger expansions lead to earlier onset of the disease. We report on a girl with a huntingtin allele of > 140 (CAG)n repeats. Unspecific neurological symptoms were noted at the age of 4.3 years followed by rapid disease progression with psychomotor deterioration.

Key words

Chorea Huntington - Childhood Onset - Westphal Variant - Polyglutamine Disease

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Dr. Martin Gencik

Molecular Human Genetics, Ruhr-University

44780 Bochum

Germany

Email: martin.gencik@ruhr-uni-bochum.de