Week 8: The Genetics of Neurodegeneration Flashcards
1
Q
Dementia
A
- A relatively broad word for a number of conditions that affects cognitive, movement and the physiology of the patient
- Symptoms can be split into 3 categories:
+ Cognitive
+ Non-cognitive
+ Disabilities
2
Q
Cognitive symptoms of dementia
A
- Memory loss
- Failing intellect + inability to learn new skills
- Poor concentration
- Language impairment
- Disorientation/confusion
3
Q
Non-cognitive symptoms of dementia
A
- Depression
- Delusion
- Anxiety
- Aggression
- Sleep disturbances
- Disinhibition ie anti-social behaviours
4
Q
Disability symptoms of dementia
A
- Difficulties with day-to-day tasks
- Self-neglect
- Incontinence + other physical disabilites ie inability to control urine flow
5
Q
The tripartite nosology of dementia
A
- Depending on the specialists you ask, you will get different definitions of dementia and the causes behind it but often they revolve around:
+ Clinical presentation
+ Pathological findings
+ Genetics
6
Q
Pathologies that may result in the Alzheimer’s pathological diagnosis
A
- Plaques of Beta-amyloids that are often surrounded by glial cells/micrglia, astrocytes and dystrophic neuritic processes
- Neurofibrillary tangles + neuropil threads
- Synaptic loss
- Hirano bodies in dendrite
- Granulovacuolar degenration
- Degenerating neurites
7
Q
Huntington’s Disease/Chorea
A
- A from of dementia that is presented with uncontrolled jerking motions
- Has a clear genetic cause that can be familial
- Caused by ch4 with a CAG repeat expansion in exon 1, with each repeat + certain number of glutamine repeats, earlier onset increases
8
Q
Creutzfeldt-Jakob Disease (CJD)
A
- A transmissible prion neurondegenerative disease that can be inherited
- Methods used to study Huntington’s have been applied to studying CJD
- Evidence of transmission has been seen in post-mortem grafts/tissues
- 3 pathways to CJD: Idiopathic, inheritance and transmission
- Idiopathic involves stochastic/random misfolding
- Inheritance involves predisposition
9
Q
Dementia with Lewy Bodies (LB)
A
- Extracellular aggregation allows its distinction
- Further present in Alzheimer’s
- Further differed by that it is made of a different protein and thus has a different pathology
- (MIght need some extra info)
10
Q
Frontal Temporal Dementia (FTD)
A
- A form of dementia that requires me to read some papers that they’ve put on the powerpoint slides that wasn’t worth my time, so I forgot to read them
11
Q
Trisonomy 21 in relation to Alzheimer’s
A
Shit didnt save bitch
