A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease

Acta Neuropathol. 2015 Oct;130(4):599-601. doi: 10.1007/s00401-015-1473-5. Epub 2015 Sep 7.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Aged, 80 and over
  • Brain / metabolism*
  • Brain / pathology*
  • C9orf72 Protein
  • DNA Repeat Expansion*
  • DNA-Binding Proteins / metabolism*
  • Dipeptides
  • Humans
  • Proteins / genetics*
  • Proteins / metabolism*

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • DNA-Binding Proteins
  • Dipeptides
  • Proteins