CNS-dementia & degenerative disorders Flashcards
what allele is associated with increased alzheimers risk? decreased risk?
increased risk- e4
decreased risk-e2
what gene mutations are associated with familial AD?
presenilin 1 and presenilin 2
what are neurofibrillary tangles
intracellular aggregates of fibers composed of hyperphosphorylated tau protein
what is pick disease
degenerative disease of frontal and temporal cortex (spares parietal and occipital)
what type of aggregates are seen in pick disease
round aggregates of tau protein in the neurons of the cortex
what are the “TRAP” features of parkinson
T- tremor
R- rigidity
A-akinesia
P- postural instability & shuffling gait
what does the histology of parkinson show
pigmented neurons in teh substantia nigra and round eosinophilic inclusions of a-synuclein (lewey bodies) in affected neurons
what disease
“degeneration of GABAergic neurons in the cuadate nucleus of the basal ganglia”
huntington disease
what is the gene issue in huntingtons
auto dom disease
characterized by expanded trinucleotide repeats (CAG) in the huntington gene
what is the triad symptoms seen in normal pressure hydrocephalus
wet, wobbly, wacky
what is the issue in prion disease (with the protein)
alpha pleated sheet protein PrPc is converted to beta pleated sheet protein PrPsc
what is the most common form of spongiform encephalopathy
creutzfeldt jakob disease
what disease
“periodic sharp waves seen on EKG”
CJD
