Cognitive Flashcards
Dementia screening
CBC, glucose, TSH, BMP with Cr/BUN, LFTs
-no VDRL/RPR or HIV screening anymore or LP
AD genes
ALL Autosomal dominant
Late onset AD - APOE4 increases risk -chr 19
(ApoE4 homozygous is a susceptibility gene not genetic mutation)
(apo E2 protective)
Early - APP- amyloid precursor - chr 21
presenilin 1 (most common) -chr 14
presenilin 2 -chr 1
TREM2 gene increase risk AD
-beta-amyloid plaques, tau fibrillary tangles
lecanemab - decreased B amyloid plaques, moderate effect on disease -
Risk: ARIA - rash, encephalopathy, superficial siderosis
Risk factors: FEMALE gender, low level education, repeated head trauma
IgLON5 Ab
Abnormal sleep movements, obstructive sleep apnea, bulbar Sx, central hypo ventilation, tauopathy
FDG PET patterns
AD dementia- low posterior temporoparietal activity (post cingulate low first)
-decreased glucose metabolism
LBD - lateral occipital cortex low, cingulate island sign = post cingulate preserved > temporoparietal hypometabolism
FTD - low frontal lobe, anterior temporal lobe
HD - low caudate, putamen
vascular dementia - scattered areas low update corresponding to infarcts
PSP - decreased glucose metabolism BG, thalamus, upper brainstem, ant cingulate
atypical AD
- parietaloccipital - Gerstmann
- logopenic - L temporoparietal function - repetition impaired
FTDegeneration
Pathology:
FT lobar degeneration
Primary progressive aphasias - semantic variant- FTD 43-
non fluent agrammatic variant - then hand involved (fine finger movements) -apraxia
-bvFTD - like a kid - loss empathy, apathy; FTD/ALS - C9orf72 TDP 43
-picks disease repeat expansion
-motor FTD - PSP - hummingbird
-motor FTD - CBD
tpd43 semantic variant
focal anterior temporal lobe atrophy - start asymmetric on left then right then orbitofrontal
Progranulin - TPD 43
MAPT - chr 17
3R repeats - Pick’s
4R - CBD and PSP
AD CSF
CSF pattern consistent with high risk of progression from MCI to Alzheimer’s:
High Tau, LOW beta-amyloid
-beta-amyloid plaques accumulate so low beta amyloid in CSF
minor cognitive impairment
1 or more domains
-doesn’t interfere with iADLs
-amnestic MCI->early AD
vs nonamnestic - language/executive/attn/visuospatial fxn
papez circuit, memory formation
entorhinal cortex->hippocampus->fornix->mamillary bodies->Anterior Nuc thalamus ->cingulate gyrus->entorhinal cortex
medial temp lobe: storage, retrieval (3 word recall first impairment ; episodic memory impaired vs immediate/remote memory; semantic spared until laterAD)
-BL medial temp lobe lesions - loss declarative/explicit memory
no specific lesions leading to loss of nondeclarative memory
AD histopathology, pathophys
-
early before Sx: amyloid deposition-cortex, leptomeningeal vessels**
neuritic plaques piles of sprinkles, neurofibrillary tangles-most specific -
-granulovacuolar degneration, Hirano bodies-less specific
(*Alzheimer’s type II astrocytes - hepatic encephalopathy)
-loss cholinergic neurons-nucleus basalis of Meynert
-loss AChtransferase acitivty-correlates with memory loss
MRI: hippocampal lumpy bumpy sign
Amyloid scan: grey + white matter light up, normal = just white matter lights up
Huntington’s disease
chromosome 4
FTD
inherited - chromosome 17 (backwards F)
tauopathy -histo: pick bodies (clumps of tau)
-behavioral variant FTD - Pick’s disease - least likely to be depressed vs HD- apathy, abulia, poor judgement, personality change, hyperphagia, OCD
-progresive nonfluent aphasia - preserve comprehension
-semantic dementia/progressive fluent aphasia - ~transcortical sensory aphasia, BL temp
Kluver-Bucy - BL anterior temporal lobe/amygdala - hyperphagia, hyperorality, and hypersexual, visual agnosia- HSV encephalitis
thalamic nuclei
anterior nuclei - Papez circuit memory formation
Dorsomedial nuc - abulia, anterograde amnesia, social disinhibition
pulvinar - visual, sensory integration
VPM-face and parvicellular potion = taste input
VPL-body
reticular nuc - sleep spindles
akinetic mutism
BL GPi
-BL ACA infarcts
-medial frontal lobe
TBI
altered personality interferes most with rehab