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Cognitive prognosis of patients with tuberous sclerosis complex

Elisabeth B Winterkorn1, Margaret B Pulsifer, Elizabeth A Thiele

  • 1Departments of Neurology, Massachusetts General Hospital, Boston, MA, USA.

Neurology
|January 4, 2007
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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,...