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Progressive deterioration of reaction time performance and choreiform symptoms in a new Huntington's disease

Chunyan Cao1, Yasin Temel, Arjan Blokland

  • 1Department of Psychiatry and Neuropsychology, Division of Cellular Neuroscience, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.

Behavioural Brain Research
|March 30, 2006
PubMed

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...