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Predictive testing for Huntington's disease in a digital age; patient power with potential pitfalls

V Mocanu1, S G Lindquist2,3,4, L E Hjermind3

  • 1City St. George's University, School of Health & Medical Sciences, London, UK.

European Journal of Human Genetics : EJHG
|January 29, 2025
PubMed
Summary

No abstract available in PubMed .

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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,...