Hi - Neurodegeneration Flashcards
What is prion disease?
Prions are misfolded proteins that are transmissible without the need for DNA/RNA involvement
List types of prion diseases in humans
CJD
Kuru
Gerstmann Struasser Sheinker
Fatal Famillial Insomnia
Histology of prion disease
Proteinopathy - prion protein deposits
Spongiform nature of tissue
What is new variant CJD?
inc age range, cause, a key legal feature
Sporadic neuropsychiatric disorder affecting <45y/o
Linked to BSE (infected bovine ingested material)
A notifiable disease
Sx of new variant CJD
cerebellar ataxia
dementia
longer duration than CJD
Histopathology of AD
Extracellular B amyloid plaques - senile plaques on silver staining
Neurofibriliarly tau tangles
Cerebral amyloid angiopathy
Neuronal loss with cerebral atrophy
Ix and Dx of AD
Braak staging of tau pathology
Aetiology of PD
Lewy body (eosinophilic) inclusions in substantia nigra, resulting in loss of neuromelanin in dopaminergic areas projecting to basal ganglia
What mutation is linked to lewy body disease
alpha synuclein
Causes of parkinsonism
PD
Idiopathoc
Drug induced
Atypicals - MSA / PSP / CBD
Vascular pseduo-PD
AD
FT neurodegenerative diseases
+20 others
What is MSA
Multiple system atrophy
Alpha-synucleinopathy in glial support cells more than neurones
What is PSP
Progressive Supranuclear Palsy
Tauopathy, not alpha synuclein
What is CBD
Astrocytic tau protein plaques, not alpha synuclein
Histology of Picks disease
3R tauopathy
Gliosis
Neurononal loss
Balooned neurones
Pick bodies (tau +) in frontal lobes
Where is tau and what is it composed of?
On 17q21 gene
Has 16 exons and 6 isoforms due to alternate splicing
