Cerebral Cortex Diseases Flashcards
What is the key feature of frontotemporal dementia?
Frontal lobes particularly affected - motor problems and personality changes
What are the key features of motor neuron disease?
Frontotemporal lobe deficit and motor neuron deficit
What are the symptoms of Alzheimer’s disease?
Memory loss
Decline in orientation reasoning
Decline in cognitive functions
What are the changes in the brain of an Alzheimer’s disease patient?
Generalised cortical atrophy - particularly hippocampus, entorhinal cortex, amygdala
Neurofibrillary tangles in neurons - twisted fibrils of hyperphosphorylated tau
Extracellular beta-amyloid plaques
What is the cause of autosomal dominant Alzheimer’s disease?
APP mutation - on chromosome 21
What is the role of APP?
Cleavage of amyloid precursor to beta-amyloid
Which genes are important for APP cleavage of amyloid precursor?
Presenilin 1 and 2
Where is the apolipoprotein ε4 allele located?
Chromosome 19
What are the symptoms of MND and FTD not seen in AD?
Decline in interpersonal social conduct
Decline in grooming and hygiene
Emotional blunting
Dietary changes
What is the main protein behind MND?
TDP-43
What are the main proteins behind FTD?
TDP-43 and TAU
What are the symptoms of MND?
Early ‘lower’ MN degeneration - spontaneous firing - muscle fasciculation
Later ‘upper’ MN degeneration - swallowing and breathing problems
What is the evidence for prion-like mechanisms causing AD, MND, and FTD?
All have cellular protein aggregation - may be due to conformationally-distinct beta-pleated sheet arrangement
Many conformational variants of beta-amyloid and tau - may cause different forms of disease
Start in one place - spread in distinct pattern - may propagate via neural connectome
