Multiple clinical features of Huntington’s disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration

  title={Multiple clinical features of Huntington’s disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration},
  author={Sonia Podvin and Holly T. Reardon and Katrina Yin and C. Mosier and V. Hook},
  journal={Journal of Neurology},
  • Sonia Podvin, Holly T. Reardon, +2 authors V. Hook
  • Published 2018
  • Biology, Medicine
  • Journal of Neurology
  • Huntington’s disease (HD) is a fatal neurodegenerative disease caused by mutant HTT gene expansions of CAG triplet repeat numbers that are inherited in an autosomal dominant manner. [...] Key Result Quantitative HTT gene expression patterns analyzed in normal adult human brain regions demonstrated its distribution in areas known to undergo neurodegeneration in HD, as well as in other brain regions. Future investigation of the relationships of the spectrum of clinical HD features with mutant HTT molecular…Expand Abstract
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