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  • Title: Huntington Disease: Genetics, Prevention, and Therapy Approaches.
    Author: Yapijakis C.
    Journal: Adv Exp Med Biol; 2017; 987():55-65. PubMed ID: 28971447.
    Abstract:
    Huntington's chorea or Huntington disease (HD) is a late-onset autosomal dominant neurodegenerative disorder caused by a trinucleotide repeat expansion. The multidisciplinary study of HD has been the focus of an international collaborating effort of basic and applied research for several decades. HD was the first human genetic disease mapped using linkage analysis of DNA polymorphisms and became a paradigm for scores of genes mapped in the same manner. Presymptomatic and prenatal testing have been available for HD families in the last 30 years, following genetic counseling and careful bioethical guidelines. Nevertheless, with the cure for the disease still elusive the uptake of predictive testing by at risk individuals is low. Current treatment of HD is mostly symptomatic, but ongoing observational studies, clinical trials and development of new gene silencing technologies have provided hopeful results.
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