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Management and outcome of pallidal deep brain stimulation in severe Huntington's disease

D Huys1, C Bartsch, P Poppe

  • 1Department of Psychiatry and Psychotherapy, University-Hospital of Cologne, Kerpener Str. 62, 50937 Cologne, Germany. daniel.huys@uk-koeln.de

Fortschritte Der Neurologie-Psychiatrie
|April 17, 2013
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,...