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frontotemporal dementia 3 (FTD3, chromosome 3-linked FTD)
Pathology:
1) no distinctive neuropathological features
2) global cortical & central atrophy
3) no beta-amyloid deposits
Genetics:
- associated with mutations in the CHMP2b gene
Clinical manifestations:
1) onset of dementia in the late 50's
2) initially characterized by behavioral & personality changes
a) apathy
b) restlessness
c) disinhibition
d) hyperorality
3) disorder progresses to
a) stereotyped behaviors
b) non-fluent aphasia
c) mutism
d) dystonia
e) marked lack of insight
Interactions
disease interactions
Related
charged multivesicular body protein 2B gene (CHMP2b)
charged multivesicular body protein 2B; CHMP2.5; chromatin-modifying protein 2b; CHMP2b; vacuolar protein sorting-associated protein 2-2; Vps2-2; hVps2-2 (CHMP2B)
General
frontotemporal dementia; frontotemporal lobar degeneration; frontotemporal neurocognitive disorder (FTD, FTLD)
genetic disease of the central nervous system
Database Correlations
OMIM Q9UQN3
References
- UniProt :accession Q9UQN3
- OMIM :accession 600795