Neurobiology 2: NDD Flashcards
what are some examples of progressive CNS disease?
AD PD HD HIV cryptococcus MS alcohol related dementia
when do rare recessive mutant protein disorders usually happen
in childhood
what is an example of a dominant protein
HD
what protein is involved in AD?
tau and amyloid beta
what disease is aSyn protein involved in?
PD, dementia with lewy bodies, MSA
what disease is TDP-43 involved in ?
MND, FTLD
What protein is FUS involved in?
FTLD
what protein is prion protein involved in?
CJD
explain the pathophysiology of how the protein is causes disease
a native protein -> misfolded monomers (due to misfolding and chaperone acitivity) -> oligomers/protofibrils and other intermediates (due to oligemerisation) -> fibrils from fibril formation
what makes up a NDD
1) Region (e.g substantia nigra)
2) Cell type (dopaminergic nigrostriatal neurone)
3) Pathology (neuronal loss)
all lead to disease (PD)
what are the cognitive domains ?
- memory
- language
- visuospatial
- executive
- social behavioral
- psychiatric
what are the symptom domains which are affected in clinical syndromes?
- cognition
- motor -
- motor +
- sensory
- behavior
- sleep
- autonomic
how are the domains affected in PD?
cognition = memory/visuospatial/executive motor = Parkinsonism, dystonia, tremor psychiatric = depression, hallucinations, paranoia, compulsions sleep = insomnia autonomic = constipation, post hypo, erectile dysfunction.
how are the domains affected in MND?
cognition = language, executive and social motor = UMN/LMN psychiatric = depression, paranoia behavior = apathy, disinhibition, stereotyping, eating and diarrhoea.
what genes are implicated in the following:
- Amyloid beta
- Prion
- Tau
- Asyn
- FUS
- TDP-43
- Amyloid beta -PSEN1/2, APP
- Prion - PRNP
- Tau - MAPT
- Asyn - SNCA, LRRK2
- FUS - FUS
- TDP-43 - GRN, TARDBP
