Dementia 7 Flashcards
- What are the 2 main autosomal dominant genetic mutations that can cause a Frontotemporal dementia?
- What percentage of FTDs are due to inherited genetic mutation?
- What chromosome are these genes located?
- MAPT (Microtubule-Associated Protein Tau)
- Leads to FTD with Parkinsonism (FTDP-17)
PGRN (Progranulin gene mutation)
- 50%
- Chromosome 17
What are the 3 major causes of Frontotemporal dementia?
- ALS
- Mutations (5 different genes identified, each can individually cause FTD)
- Picks disease
Is Picks Disease inheritable?
No evidence of heritability
What are the classic histologic finding associated with Picks Disease?
- Pick bodies - Tau protein aggregates inside neurons
- Pick cells - Ballooned out neurons as it is dying
- Profound Frontrotemporal atrophy of brain.
What 4 areas of the brain have profound atrophy in Picks Disease?
- Frontal lobe
- Anterior temporal lobe
- Caudate Nuclei
- Amygdalae
HIV virus itself can cause Major NCD by direct neuronal injury/death…
What are the 6 other ways in which HIV can cause major CNS problems?
- Progressive multifocal Leukoencephalopathy (PML)
- CMV encephalitis/retinitis
- Toxoplasmosis encephalitis (circular brain lesions)
- Cryptococcal meningitis
- CNS lymphoma - EBV
- Kaposi’s Sarcoma
In HIV Progressive Multifocal Leukoencephalopathy, what is the opportunistic pathogen?
Polyomavirus (JC virus)
What is Kuru?
Prion disease of tribal people in Papau New Guinea that consume brain in funeral ritual.
What are the three ways in which you can get Creutzfeldt-Jakob Disease?
- Sporatic (very rare 1:million)
- Acquired - Bovine spongiform encephalopathy/mad cow.
- Inherited/familial (10-15%) -PRNP gene mutation on Chromosome 20
Prions are normal proteins found in CNS that have a role in transportation….what is the pathology in Prion diseases?
Misfolded prion to an abnormal flat sheet structure (normal = helical) which then aggregate and cause cell death. Misfiled prions induce other normal prions to misfiled and cascade occurs.
