Flashcards in Fronto-Temporal Dementias Deck (19)
Key clinical features of FTDs?
- semantic dementia
- behavioural variant
- progressive non-fluent aphasia
Neuropathological features of Pick's Disease?
- Frontal symptoms
- sporadic tauopathy (no MAPT mutation)
- F-T atrophy ("knife edge atrophy")
- tau positive PIck bodies
- marked gliosis and neuronal loss
- balloon neurons
No. of isoforms of tau protein?
Isoforms of tau antibodies?
PHF1 antibody ]- general
3R-Tau antibody]- Pick's bodies
Clinical correlate of 3R/4R tauopathy?
FTLD w/ 3R and 4R Tau (V337M, R406W)
Clinical correlate of 4R tauopathy?
FLTLD w/ 4R Tau (P301L)
Clinical correlate of 3R tauopathy?
FTLD w/ 3R Tau (K257T, G389R)
Spectrum of Tau FTD pathology (+neuropath features): Pick's, CBD and PSP?
Pick's Disease: Pick bodies
CBD: astrocytic plaques
PSP: coiled bodies, tufted astrocytes
On what chromosome is the tau gene located
Tau -ve, TDP+ve, ubiquitin +ve, neuronal inclusions in FTD?
Progranulin (function currently unknown)
Mutated progranulin (adjacent to MAPT Tau gene)
-> instracytoplasmic and intranuclear inclusions
Molecular subtypes of FTD?
- Tauopathies: 3R/4R, 4R, 3R
MRI imaging changes in FTDs?
A- semantic dementia
C- progranulin, FTD
What is FUS regading FTD?
"Fused in Sarcoma"
Characteristic inclusion accounting for some atypical FTD
What is C9orf72 regarding FTD?
Commonly associated w/ ALS
C9orf72 +ve inclusion in cerebellum (other parts TDP43 -ve)
Current classification of FTLD
Tau +ve FTLD
Tau -ve FTLD
TDP-43 +ve, ubiquitin +ve]- FTLD-TDP (type A-D)
TDP-43 -ve, ubiquitin +ve (FTLD-FUS, FTLD-UPS)
TDP-43 -ve, ubiquitin -ve (DLDH)
What is DLDH?
Dementia lacking distinctive histology
What mutation causes FTLD-UPS?
Mutation in CHMP2B gene