Alzheimer's disease Flashcards
Familial Alzheimer’s disease
- What % of cases
- Associated with mutations in which proteins?
- Severity and onset?
5%
Amyloid precursor protein and presenilin 1/2
40s and 50s, very aggressive
Late onset Alzheimer’s disease
- What % of cases
- Is it linked to mutations in amyloid processing pathway?
95%
No
4 typical symptoms?
Memory impairment
Executive dysfunction
Confusion and agitation
Mood and personality changes
Atypical presentation - 3 changes?
Language impairment
Visual problems
Motor dysfunction
What are the 4 pathological aspects of Alzheimer’s
Amyloid plaques
Neurofibrillary tangles
Synaptic dysfunction and cell death
Hippocampal atrophy and memory deficits
What is the name of the protein that aggregates to form extracellular amyloid plaques?
amyloid beta protein 42
Do you need to know the amyloid processing pathway
Yes
Do you need to know the Tau hyperphosphorylation –> neurofibrillary tangles pathway
Yes
Do you need to know genetic and environmental risk factors
Yes
Do you need to know amyloid cascade hypothesis and tau hypothesis?
Yes
Correlation with disease:
- Amyloid beta gene
- Amyloid beta protein
Gene correlates with familial Alzheimer’s disease
however protein level doesnt
Correlation with disease:
- Tau protein
- NF tangles
Tau mutations don’t correlate with alzheimer’s (but do with frontotemporal dementia)
NF tangles do correlate with disease
Two main types of treatments
Treating symptoms
Disease modifying treatments
Do you need to know these treatments
Yes
Do you need to know animal models
Yes
