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Neuro II Exam 1 > Neurodegenerative Disorders - Fremont-Smith > Flashcards

Neurodegenerative Disorders - Fremont-Smith Flashcards

1
Q

alzheimers

A

cortical

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2
Q

parkinsons

A

midbrain

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3
Q

huntingtons

A

caudate

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4
Q

CAG repeats

A

spinocerebellar degeneration

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5
Q

ALS

A

UMN and LMNs

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6
Q

dementia

A

loss of mental power

with pathology of brain damage

stroke, hippocampal sclerosis, trauma, hydrocephalus, CNS infections, metabolic disorders, demyelinative, neuropsych, organ failure, med effects

and neurodegenerative diseases

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7
Q

neuronal storage diseases

A

mutations in synthesis/storage of sphingolipids, mucolipids, mucopolysaccharides

accumulation of substrates

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8
Q

leukodystrophies

A

defect in myelin synthesis or turnover

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9
Q

mito encephalomyelopathies

A

disorders of ox phos

-mutations of mito genome

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10
Q

neuronal ceroid lipofuscinoses

A

lysosomal storage disorders - lipofuscin accumulation

blindness, mental and motor deterioration, seizures

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11
Q

krabbe disease

A

auto rec leukodystrophy
deficiency of galactocerebroside beta-galactosidase
-no breakdown of galactocerebroside

toxic to oligodendrocytes

weakness/stiffness 3-6 months of age - survival < 2 years

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12
Q

globoid cells

A

glycolipid engorged macros around blood vessels

in krabbe disease

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13
Q

metachromatic leukodystrophy

A

auto rec
-deficiency of arylsulfatase

sulfatide accumulate and block oligodendrocyte differentation

myelin loss and gliosis

macros with metachromatic maaterial

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14
Q

adrenoleukodystrophy

A

progress loss of myelin and adrenal insufficiency

inability to catabolize long chain FAs

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15
Q

pelizaeus-merzbacher disease

A

X-linked leukodystrophy

mutation in myelin proteins

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16
Q

mitochondrial encephalopathy, lactic acidosis, and strokelike episodes

A

MELAS

most common neuro syndrome with mito abnormalitles

recurrent neuro dysfunction and cognitive changes
-reversible deficits

mutation - mito tRNA

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17
Q

leigh syndrome

A

subacute necrotizing encephalopathy

1-2 yo with developmental arrest

feeding problem, seizure, extraocular palsy, hypotonia, lactic academia

brain - B/L damage with spongiform changes

-midbrain periventricular gray matter, pontine tegmentum, thalamus, and hypothalamus

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18
Q

beta-amyloid

A

alzheimers

cerebral amyloid angiopathy

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19
Q

tau

A

AD, FTLD, picks, progressive supranuclear palsy, corticobasal degeneration

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20
Q

TDP43

A

FTLD, and some ALS

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21
Q

synuclein

A

PD, dementia with lewy bodies disease, multiple system atrophy

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22
Q

huntingtin

A

huntingtons

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23
Q

prion

A

CJD, vCJD, GSS, FFI

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24
Q

vCJD

A

variant

-consumption of food with prions

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25
sCJD
sporadic | -majority of cases
26
neurodegen disorders
may have basis around protein misfolding - like prion disease may be link
27
tau and beta-amyloid
alzheimers
28
alzheimers
older age >65yo slow progressive memory dysfunction dysphasia, dyspraxia most sporatic
29
down syndrome
more likely to develop alzheimers
30
memory loss, poor planning, confusion with time and place, problem word findings, misplace objects, decreased judgment, social withdrawal, mood/personality changes
alzheimers clinical
31
alzheimers deposition
amyloid - outside neuron | tau - inside neuron
32
BACE
beta-amyloid converting enzyme - causes aggregates in alzheimers - releases insoluble amyloid beta aggregates and forms fibrils
33
familial AD
beta amyloid precursor protein | 21q21
34
early onset AD
``` presenilin 1 (14q24.3) presenilin 2 (1q31-q42) ```
35
apolipoprotein E gene
19q13. 2 - E4 isoform - increased beta amyloid formation - increased risk for AD 25%
36
tau protein mutation
17q21.1 - with AD
37
most cases of AD
sporadic
38
beta-amyloid plaques
AD
39
tau
stabilizes microtubules | -aggregates if abnormal - in neuron and axon
40
early asymptomatic alzheimers
pre-tangle tau aggregates and tau protein tangles
41
silver stain
tau positive
42
poor recovery after head trauma
tau protein in CSF
43
hyper-P of tau
makes it abnormal
44
plaque and neurofibrillary tangle
AD - beta-amyloid plaque - tau tangles
45
diffuse A-B plaques and neuritic plaques
AβPs are spherical exracellular Aβ deposits NPs are AβPs containing degenerating neuronal processes with tau paired helical filaments
46
cerebral amyloid angiopathy
not AD, but if AD present - this is almost always present deposition of beta-amyloid in small vessels result in ischemia or hemorrhagic lesions vessel wall weak and can break
47
CSF biomarkers for AD
decreased beta-amyloid increased tau not diagnostic
48
frontotemporal lobar degeneration
FTLD -includes picks, progressive supranuclear palsy, corticobulbar degeneration personality, behavior and language changes BEFORE memory (as opposed to AD)
49
smooth contoured inclusions of tau
pick disease type of FTLD
50
FTLD tau
only tau aggregation - no beta-amyloid
51
tangle tau
FTLD tau
52
TDP43
also cellular inclusion in FTLD
53
picks disease
45-65yo - progressive symptoms - advanced- similar to AD atrophy frontal and temporal lobes pick bodies - tau spherical neuro inclusions
54
progressive supranuclear palsy
tauopathy progressive truncal rigidity, disequilibrium, falls, eye movement difficulty 50-70yo Males 2x females disease fatal - 5-7 years after onset
55
loss of dopaminergic neurons from substantia nigra
parkinson disease dementia with lewy bodies severity of motor syndrome - proportional to dopamine deficiency
56
etiology of PD
idiopathic form MPTP - drug form GUAM - toxic AA in cycad plant seed aluminum - in drinking H2O and other conditions damaging the substantia nigra
57
to find substantia ingra
cut mid-brain across the superior colliculus
58
tremor, rigidity, bradykinesia
parkinsons ``` stooped posture rigidity tremor slow movement masked facies - diminished expressions ```
59
diagnosis of PD
symptomatic response to L-Dopa
60
deep brain stimulation
may get rid of motor symptoms of PD - poorly understood mechanism
61
synucleinopathy
PD fibrils of insoluble alpha synuclein - in neuron cell body cytoplasm inclusions - lewy bodies
62
lewy bodies
alpha synuclein fibrils deposited in neuronal cell body cause neural degeneration and death
63
lewy neurits
alpha synuclein - in neuronal processes and in astrocytes and oligodendroglial cells
64
diffuse lewy body disease
DLBD second most common cause of dementia after alzheimers
65
DLBD
dementia and parkinsonism fluctuating attention and cognition hallucinations** motor parkinsonism manifestations vary in severity and appear late depression, sleep disorder, autonomic dysfunction
66
alzheimers brain
atrophic
67
DLBD brain
lewy bodies in neocortex, limbic system, brainstem
68
multiple system atrophy
MSA 3 circuits involved 1 - striatonigral circuit - parkinsonism 2 - olivopontocerebellar circuit - ataxia 3 - autonomic - orthostatic hypotension alpha-synuclein inclusions in oligodendrocytes atrophy of putamen
69
alpha-synuclein in oligodendrocytes
key features of MSA
70
huntington disease
auto dom 40-50yo behavioral change, chorea, dementia
71
caudate and putamen absent
in huntingtons disease
72
IHC for huntingtin protein
for huntingtons disease intranuclear inculsions in neurons -also with ubiquitin
73
CAG repeats on chrommosome 4p16.3
huntingtons disease | -huntingtin protein
74
repeat expansion
during spermatogenesis - paternal transmission - associated with early onset in next generation - known as anticipation** occurs with huntingtons disease
75
polyglutamine polyQ disease
huntingtons disease repeat of CAGs - lots of glutamine abnormally folded protein
76
mechanisms for trinucleotide repeats to cause disease
LOF affected gene - silences gene - repeats in non-coding part ofgene **toxic GOF - alteration of protein structure - aka huntingtons toxic GOF mediated by mRNA - fragile X tremor-ataxia syndrome
77
huntingtons
degeneration of cholinergic and GABA-ergic cells in basal ganglia get excess dopamine
78
amyotropic lateral sclerosis
ALS -degeneration of UMN and LMN LMN - muscle weak, atrophy, fasciculations UMN - spasticity, clonus, hyperactive DTR, babinski dementia often with ALS
79
prognosis of ALS
majority of patients die - respiratory paralysis | -2-3 years after symptom onset
80
motor neurons in ALS
die by wallerian degeneration with secondary gliosis
81
diagnosis of ALS
clinical progression and needle electromyography or nerve conduction studies
82
fridereichs ataxia
auto rec GAA repeats - frataxin gene 1st decade hand clumsiness, gait ataxia, and pes cavus also with diabetes
83
spinocerebellar ataxias
auto dom | CAG repeats on multiple chromosomes
84
degeneration of posterior columns of spinal cord | atrophy of dorsal roots
friedreichs ataxia -degenerative disorder destruction of ganglion cells and their axons loss of sensory ganglion cells - cannot coordinate movement also with cardiovascular disease - pes cavus
85
auto dominant spinocerebellar ataxia
ADSCA - CAG triplet expansion - polyglutamine (polyQ) on affected protein anticipation - worse with more generations cerebellar degeneration
86
multiple sclerosis
destruction of myelin
87
neuromyelitis optica
NMO -demyelinating intense pain with vomiting - B/L optic neuritis - more in women - auto-Ab against aquaporin 4 water channel of astrocyte tx - plasmapharesis and anti-CD20 Ab therapy
88
progressive multifocal leukoencephalopathy
PML demyelinative disease -polyoma virus JC -acquire virus at young age - latent in kidneys - immunosuppression reactivation patient with AIDs, cancer, inflammatory disorder, organ transplant recipient
89
guillan barre syndrome
acute inflammatory demyelinating polyneuropathy demyelination of spinal nerve roots and peripheral nerves
90
family hx of MS
7x increased risk
91
measles virus
with MS
92
multiple sclerosis
autoimmune demyelinating - relapse and remitting episodes Th1 and Th17 lymphocytes react to myelin antigens -type 4 hypersensitivity loss of saltatory conduction associated with northern latitudes
93
diagnosis of MS
T2 active plaques T1 atrophy and black holes of neuron loss CSF - IgG oligoclonal bands
94
MS CSF
normal glucose | normal protein - but monoclonal bands
95
central pontine myelinolysis
CPM - osmotic demyelination syndrome - hyponatremic patients corrected rapidly - severe hyperosmolar not preceded by hyponatremia often asymptomatic -seen on MRI demyelination of axons

Neuro II Exam 1 (14 decks)

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