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Post-mortem Findings in Huntington's Deep Brain Stimulation: A Moving Target Due to Atrophy

Vinata Vedam-Mai1, Daniel Martinez-Ramirez2, Justin D Hilliard1

  • 1Department of Neurosurgery, University of Florida Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|April 30, 2016
PubMed
Abstract

Keywords:
Deep brain stimulationHuntington’s diseaseatrophychoreaelectrode designhistopathology

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Huntington Disease l: Introduction01:21

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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,...