ND - L2 Flashcards
What areas of PD were discussed?
clinical symptoms
causes
genetics
a-synuclein
What are the categories of clinical symptoms?
motor
cogntive
sensory
autonomic
What are some motor symptoms?
slowness, stiffness, tremor, postural instability, shuffling gait, decreased arm swing
What are some cognitive symptoms?
mood, depression, anxiety, pain, tiredness, confusion
What are some sensory symptoms?
numbness, aching, restlessness, lack of smell
What are some autonomic symptoms?
hot/cold sensations, constipation
What are the causes of PD?
sporadic (toxins, metals, drugs MPTP)
familial (a-syn, parkin, LRRK2, DJ1, PINK1)
Describe the a-syn aggregation & dopamine pathway
-
What are some a-syn mutations?
A30P, A53T, E46K
What are two models of a-syn and describe their outcomes
transgenic mice overexpressing A53T a-syn - get a motor deficit
transgenic mice overexpressing wild type a-syn - reduced straital tyrosine hydroxylase levels (also movement disorder)
Describe the methods to prove a-syn propagation
intracerebral inoculation of a-syn - rapidly progressive NG
inject recombinant material and it propagates
Is a-syn intra or extracellular?
typically thought of as intra, but also secreted by vesicles
Parkin
recessive
SN degeneration, occasional LBs
PINK-1
recessive
LBs
most mutations in kinase domain suggesting PINK1 enzymatic activity is relevant
phosphorylates TRAP1 (mito. chaperone)
DJ-1
recessive
no reported pathology
modulating oxidative stress response
LRRK2
dominant
usually LBs
contains MAPKKK (intra sig?)
mutations dysregulate protein synthesis and golgi sorting
Describe the a-syn and mitochondria pathway
-
Describe the modulation of a-syn
-
Which mutations induce oxidative stress?
Parkin, PINK1, DJ-1
What is dementia?
loss of cognitive function (usually related to specific regions of the cerebral cortex)
