frontotemporal dementia 3 (FTD3, chromosome 3-linked FTD)

Pathology

• no distinctive neuropathological features
• global cortical & central atrophy
• no beta-amyloid deposits

Genetics

• associated with mutations in the CHMP2b gene

Clinical manifestations

• onset of dementia in the late 50's
• initially characterized by behavioral & personality changes
  • apathy
  • restlessness
  • disinhibition
  • hyperorality
• disorder progresses to
  • stereotyped behaviors
  • non-fluent aphasia
  • mutism
  • dystonia
  • marked lack of insight

More general terms

• frontotemporal dementia
• genetic disease of the central nervous system

Additional terms

• charged multivesicular body protein 2B gene (CHMP2b)

Database

• OMIM: https://mirror.omim.org/entry/Q9UQN3