What mutations can cause inherited frontotemporal dementia?
Most cases are accounted for by mutations in the following genes:
- CHMP2B (involved in vacuolar sorting)
- Progranulin (a neurotrophin-like factor)
- TDP-43 (TAR DNA-binding protein of 43 kDa)
- VCP (valosin-containing protein) and other more recently discovered mutations that comprise the multisystem proteinopathies consisting of FTD, Paget’s disease of bone, and inclusion body myopathy)
- FUS (fused in sarcoma)
- C9ORF72 (an intronic expanded hexanucleotide repeat)