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Factor analysis of behavioural symptoms in Huntington's disease

Hugh Rickards1, Jenny De Souza, Marleen van Walsem

  • 1Department of Neuropsychiatry, Birmingham and Solihull Mental Health Foundation Trust, Barberry Building, 25 Vincent Drive, Edgbaston, Birmingham B15 2FG, UK. hugh.rickards@bsmhft.nhs.uk

Journal of Neurology, Neurosurgery, and Psychiatry
|April 16, 2010
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,...