CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like Phenotype

Mov Disord. 2022 Jul;37(7):1555-1557. doi: 10.1002/mds.29035. Epub 2022 May 5.
No abstract available

Keywords: Huntington's disease; PSP; CAG repeat; mosaicism; TDP-43; somatic instability.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Intramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Humans
  • Huntington Disease* / complications
  • Huntington Disease* / genetics
  • Neostriatum
  • Phenotype
  • Supranuclear Palsy, Progressive* / genetics
  • Trinucleotide Repeat Expansion / genetics