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BMB Test 3 > B7-051 Neurodegenerative Disease > Flashcards

B7-051 Neurodegenerative Disease Flashcards

1
Q

what is the pathologic protein in Alzheimer’s disease? [2]

A

Amyloid-beta
Tau

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2
Q

what is the pathologic protein in huntington’s disease?

A

mutant huntingtin

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3
Q

what is the pathologic protein in ALS? [3]

A

mutant superoxide dismutase
RNA-binding protein FUS
TDP-43

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4
Q

what is the pathologic protein in frontotemporal lobar degeneration? [3]

A

RNA-binding protein FUS
Tau
TDP-43

depends on type

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5
Q

what is the pathologic protein in chronic traumatic encephalopathy?

A

Tau

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6
Q

what is the pathologic protein in limbic predominant age related encephalopathy?

A

TDP-43

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7
Q

what is the pathologic protein in CJD?

A

PRP

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8
Q

what is the pathologic protein in dementia with lewy bodies?

A

a-synuclein

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9
Q

what is the pathologic protein in multiple system atrophy?

A

a-synuclein

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10
Q

what is the pathologic protein in parkinson disease?

A

a-synuclein

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11
Q

where does a-synuclein accumulate?

A

cytoplasm

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12
Q

where does Amyloid-beta accumulate?

A

extracellular

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13
Q

where does mutant huntingtin accumulate?

A

nucleus

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14
Q

where does mutant superoxide dismutase 1 accumulate?

A

cytoplasm

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15
Q

where does RNA-FUS protein accumulate?

A

cytoplasm

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16
Q

where does tau accumulate?

A

cytoplasm

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17
Q

where does TDP-43 accumulate?

A

cytoplasm

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18
Q

where does PrP accumulate?

A

extracellular

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19
Q

HHT gene is associated with what pathogenic protein?

A

mutant huntingtin

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20
Q

SOD1 gene is associated with what pathogenic protein?

A

mutant superoxide dismutase 1

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21
Q

FUS gene is associated with what pathogenic protein?

A

RNA binding protein FUS

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22
Q

MAPT gene is associated with what pathogenic protein?

A

Tau

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23
Q

LRRK2, PARK2, PARK7, PINK1, and SNCA genes are associated with what pathogenic protein?

A

a-synuclein

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24
Q

APP, PSEN1, PSEN2 genes are associated with what pathogenic protein?

A

amyloid-beta

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25
Q

C9orf72, GRN, TARDBP genes are associated with what pathogenic protein?

A

TDP-43

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26
Q

Codon 129MM or VV, PRNP genes are associated with what pathogenic protein?

A

PrP

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27
Q

inability to perceive more than a single object at a time

A

simultanagnosia

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28
Q

simultanagnosia testing [2]

A

Navon figures
overlapping objects

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29
Q

[…] issues is often the first symptom in posterior cortical atrophy

A

reading

(struggle to maintain place in text)

30
Q

posterior cortical atrophy is associated with […] proteins

A

Alzheimer’s

(more of a visual variant, but still AD)

31
Q

posterior cortical atrophy is seen more often in [males/female] and has an [earlier/later] onset than typical AD

A

females
earlier (50-60 yo)

32
Q

how is FDG-PET scan helpful in the diagnosis of neurodegenerative disease?

A

looks at the metabolism of glucose

different NDDs cause failure in different brain networks corresponding to clinical phenotype

33
Q

85% of all NDDs are considered […]

A

sporadic

34
Q

APP is on chromosome […]

A

21

(why Down’s syndrome patients have a predisposed risk to AD)

35
Q

autosomal dominant genes for AD [3]

A

APP
PSEN1
PSEN2

(only represent about 1% of AD cases)

36
Q

risk factor gene for AD

A

APOE4

37
Q

1 copy of APOE4 increases the risk of AD by

A

3x

38
Q

2 copies of APOE4 increases the risk of AD by

A

11-15x

39
Q

largest modifiable risk factor for NDD

A

hearing loss

40
Q

disruption of […] sleep increases the risk of NDD

A

slow wave

(lymphatic flow clears proteins during slow wave sleep, sleep apnea and aging disrupt slow wave sleep)

41
Q

[…] network is the first network that changes in preclinical AD

A

default mode

(APOE4 carriers show earlier deposition of this network)

42
Q

[amyloid/tau] correlates better with clinical phenotype

A

tau

43
Q

criteria for Lewy Body dementia [4]

A

REM sleep behavior disorder
cognitive fluctuations
hallucinations
parkinsonism

(must have 2 of 4)

44
Q

4 features defining Parkinsonism

A

rest tremor
slow movements
imbalance
stiffness/rigidity

(2 of 4)

45
Q

common themes across NDDs [4]

A

decreased slow wave sleep
brain network dysfunction
mitochondrial failure
protein misfolding

46
Q

[…] and […] likely play a role in protein balance stabilization and recycling of misfolded protein

A

aging
mitochondrial failure

47
Q

decreased slow wave sleep causes decreased

A

clearance of cellular protein debris

48
Q

personality and behavior are most likely to be involved on the […] hemisphere

A

right

non-dominant

49
Q

what lobes of the brain are affected in FTLD?

A

right frontal
right anterior temporal

(left lobe involvement would be much more likely to cause an aphasia variant)

50
Q

most NDDs show what pattern of clinical symptom changes?

A

insidious and progressive

51
Q

REM sleep behavior disorder is a strong predictor of […] pathology

A

a-synuclein

52
Q

agraphia, acalculia, finger agnosia, and left-right disorientation indicate a lesion in the […]

A

dominant parietal cortex

(Gerstmann syndrome)

53
Q

agnosia of the contralateral side of the world indicates a lesion in the […]

A

non-dominant parietal cortex

(hemispatial neglect syndrome)

54
Q

FDG-PET is good for diagnosing

A

Lewy Body dementia

55
Q

DaT scan is good for diagnosing

A

Parkinson’s

(measures synaptic binding)

56
Q

loss of dopaminergic neurons in the substantia nigra

A

Parkinson disease

57
Q

symptoms of Parkinson’s

A

Tremor
Rigidity
Akinesia
Postural instability

TRAP

58
Q

loss of GABAergic neurons in the striatum

A

Huntington disease

59
Q

how is Huntington disease inherited?

A

autosomal dominant- trinucleotide repeat

60
Q

HTT gene is on chromosome […]

A

4

61
Q

symptoms of Huntington disease manifest between ages

A

30-50

62
Q

chorea
athetosis
agitation
depression
dementia

symptoms of

A

Huntington disease

63
Q

atrophy of caudate and putamen with ex vacuo ventriculomegaly

A

Huntington disease

64
Q

neuronal death via NMDA receptor binding and glutamate excitotoxicity

A

Huntington disease

65
Q

early changes in personality or behavior

or aphasia

A

frontotemporal dementia

can have behavioral variant or aphasia variant depending on if dominant or non-dominant lobe is affected

66
Q

visual hallucinations
dementia with fluctuating cognition
REM sleep disorders

A

Lewy body dementia

67
Q

it is called Lewy Body dementia if cognitive and motor symptoms onset […] apart

A

less than one year

(if greater than one year, considered dementia secondary to Parkinsons)

68
Q

step-wise decline in cognitive ability with late onset memory impairment

A

vascular dementia

69
Q

MRI or CT shows multiple cortical/subcortical infarcts

A

vascular dementia

70
Q

2nd most common form of dementia in adults

A

vascular dementia

71
Q

rapidly progressive dementia with startle myoclonus

A

CJD

BMB Test 3 (18 decks)

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