de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia

Acta Neuropathol Commun. 2020 Jun 29;8(1):94. doi: 10.1186/s40478-020-00977-8.
No abstract available

Keywords: FTLD-tau; MAPT; Neurofibrillary tangles; Tau pathology.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Atrophy / genetics
  • Atrophy / pathology
  • Brain / pathology*
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology*
  • Humans
  • Male
  • Mutation
  • Young Adult
  • tau Proteins / genetics*

Substances

  • MAPT protein, human
  • tau Proteins