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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
Q

sCJD

A

sporadic

-majority of cases

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26
Q

neurodegen disorders

A

may have basis around protein misfolding - like prion disease

may be link

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27
Q

tau and beta-amyloid

A

alzheimers

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28
Q

alzheimers

A

older age >65yo
slow progressive memory dysfunction
dysphasia, dyspraxia
most sporatic

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29
Q

down syndrome

A

more likely to develop alzheimers

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30
Q

memory loss, poor planning, confusion with time and place, problem word findings, misplace objects, decreased judgment, social withdrawal, mood/personality changes

A

alzheimers clinical

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31
Q

alzheimers deposition

A

amyloid - outside neuron

tau - inside neuron

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32
Q

BACE

A

beta-amyloid converting enzyme

  • causes aggregates in alzheimers
  • releases insoluble amyloid beta aggregates and forms fibrils
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33
Q

familial AD

A

beta amyloid precursor protein

21q21

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34
Q

early onset AD

A 
presenilin 1 (14q24.3)
presenilin 2 (1q31-q42)
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35
Q

apolipoprotein E gene

A

19q13. 2 - E4 isoform
- increased beta amyloid formation
- increased risk for AD 25%

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36
Q

tau protein mutation

A

17q21.1 - with AD

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37
Q

most cases of AD

A

sporadic

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38
Q

beta-amyloid plaques

A

AD

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39
Q

tau

A

stabilizes microtubules

-aggregates if abnormal - in neuron and axon

40
Q

early asymptomatic alzheimers

A

pre-tangle tau aggregates and tau protein tangles

41
Q

silver stain

A

tau positive

42
Q

poor recovery after head trauma

A

tau protein in CSF

43
Q

hyper-P of tau

A

makes it abnormal

44
Q

plaque and neurofibrillary tangle

A

AD

  • beta-amyloid plaque
  • tau tangles
45
Q

diffuse A-B plaques and neuritic plaques

A

AβPs are spherical exracellular Aβ deposits

NPs are AβPs containing degenerating neuronal processes with tau paired helical filaments

46
Q

cerebral amyloid angiopathy

A

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
Q

CSF biomarkers for AD

A

decreased beta-amyloid
increased tau

not diagnostic

48
Q

frontotemporal lobar degeneration

A

FTLD
-includes picks, progressive supranuclear palsy, corticobulbar degeneration

personality, behavior and language changes BEFORE memory (as opposed to AD)

49
Q

smooth contoured inclusions of tau

A

pick disease

type of FTLD

50
Q

FTLD tau

A

only tau aggregation - no beta-amyloid

51
Q

tangle tau

A

FTLD tau

52
Q

TDP43

A

also cellular inclusion in FTLD

53
Q

picks disease

A

45-65yo

  • progressive symptoms
  • advanced- similar to AD

atrophy frontal and temporal lobes

pick bodies - tau spherical neuro inclusions

54
Q

progressive supranuclear palsy

A

tauopathy progressive truncal rigidity, disequilibrium, falls, eye movement difficulty

50-70yo

Males 2x females

disease fatal - 5-7 years after onset

55
Q

loss of dopaminergic neurons from substantia nigra

A

parkinson disease

dementia with lewy bodies

severity of motor syndrome - proportional to dopamine deficiency

56
Q

etiology of PD

A

idiopathic form
MPTP - drug form
GUAM - toxic AA in cycad plant seed
aluminum - in drinking H2O

and other conditions damaging the substantia nigra

57
Q

to find substantia ingra

A

cut mid-brain across the superior colliculus

58
Q

tremor, rigidity, bradykinesia

A

parkinsons

stooped posture
rigidity
tremor
slow movement
masked facies - diminished expressions
59
Q

diagnosis of PD

A

symptomatic response to L-Dopa

60
Q

deep brain stimulation

A

may get rid of motor symptoms of PD - poorly understood mechanism

61
Q

synucleinopathy

A

PD

fibrils of insoluble alpha synuclein - in neuron cell body

cytoplasm inclusions - lewy bodies

62
Q

lewy bodies

A

alpha synuclein fibrils deposited in neuronal cell body

cause neural degeneration and death

63
Q

lewy neurits

A

alpha synuclein - in neuronal processes and in astrocytes and oligodendroglial cells

64
Q

diffuse lewy body disease

A

DLBD

second most common cause of dementia after alzheimers

65
Q

DLBD

A

dementia and parkinsonism

fluctuating attention and cognition
hallucinations**

motor parkinsonism manifestations vary in severity and appear late

depression, sleep disorder, autonomic dysfunction

66
Q

alzheimers brain

A

atrophic

67
Q

DLBD brain

A

lewy bodies in neocortex, limbic system, brainstem

68
Q

multiple system atrophy

A

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
Q

alpha-synuclein in oligodendrocytes

A

key features of MSA

70
Q

huntington disease

A

auto dom
40-50yo
behavioral change, chorea, dementia

71
Q

caudate and putamen absent

A

in huntingtons disease

72
Q

IHC for huntingtin protein

A

for huntingtons disease

intranuclear inculsions in neurons
-also with ubiquitin

73
Q

CAG repeats on chrommosome 4p16.3

A

huntingtons disease

-huntingtin protein

74
Q

repeat expansion

A

during spermatogenesis - paternal transmission - associated with early onset in next generation - known as anticipation**

occurs with huntingtons disease

75
Q

polyglutamine polyQ disease

A

huntingtons disease

repeat of CAGs - lots of glutamine

abnormally folded protein

76
Q

mechanisms for trinucleotide repeats to cause disease

A

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
Q

huntingtons

A

degeneration of cholinergic and GABA-ergic cells in basal ganglia

get excess dopamine

78
Q

amyotropic lateral sclerosis

A

ALS
-degeneration of UMN and LMN

LMN - muscle weak, atrophy, fasciculations
UMN - spasticity, clonus, hyperactive DTR, babinski

dementia often with ALS

79
Q

prognosis of ALS

A

majority of patients die - respiratory paralysis

-2-3 years after symptom onset

80
Q

motor neurons in ALS

A

die by wallerian degeneration with secondary gliosis

81
Q

diagnosis of ALS

A

clinical progression and needle electromyography or nerve conduction studies

82
Q

fridereichs ataxia

A

auto rec
GAA repeats - frataxin gene

1st decade hand clumsiness, gait ataxia, and pes cavus

also with diabetes

83
Q

spinocerebellar ataxias

A

auto dom

CAG repeats on multiple chromosomes

84
Q

degeneration of posterior columns of spinal cord

atrophy of dorsal roots

A

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
Q

auto dominant spinocerebellar ataxia

A

ADSCA

  • CAG triplet expansion
  • polyglutamine (polyQ) on affected protein

anticipation - worse with more generations

cerebellar degeneration

86
Q

multiple sclerosis

A

destruction of myelin

87
Q

neuromyelitis optica

A

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
Q

progressive multifocal leukoencephalopathy

A

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
Q

guillan barre syndrome

A

acute inflammatory demyelinating polyneuropathy

demyelination of spinal nerve roots and peripheral nerves

90
Q

family hx of MS

A

7x increased risk

91
Q

measles virus

A

with MS

92
Q

multiple sclerosis

A

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
Q

diagnosis of MS

A

T2 active plaques
T1 atrophy and black holes of neuron loss

CSF - IgG oligoclonal bands

94
Q

MS CSF

A

normal glucose

normal protein - but monoclonal bands

95
Q

central pontine myelinolysis

A

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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