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unit 3 disease charts > 3.6 > Flashcards

3.6 Flashcards

1
Q

is Huntington’s disease autosomal dominant or recessive

A

autosomal dominant

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2
Q

what types of movements do we see in Huntington’s disease

A

involuntary choreatic movements

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3
Q

what repeats do we see in Huntington’s disease

A

cytosine
adenine
guanine

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4
Q

what chromosome is the Huntingtin gene on

A

chromosome 4

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5
Q

what population is more affected by Huntington’s disease

A

men and women are equally affected

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6
Q

when do symptoms of Huntington’s disease usually begin

A

between 30-50 years of age

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7
Q

when do symptoms of juvenile HD present

A

< 20 years old

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8
Q

3 hallmark manifestations of HD

A

mood (behavior and mood changes)
movement (chorea)
memory (dementia)

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9
Q

behavioral changes in Huntington’s disease

A

personality
cognitive
intellectual
psychiatric (including irritability)

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10
Q

brief, abrupt, involuntary or arrhythmic movements of the face, neck, trunk, and limbs

A

chorea

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11
Q

when does chorea worsen in Huntington’s disease

A

with voluntary movements and stress

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12
Q

when does dementia develop in Huntington’s disease

A

usually before 50 years

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13
Q

what will be atrophied on MRI or CT in a person with Huntington’s disease

A

putamen and caudate

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14
Q

what sign do we see in Huntington’s disease

A

boxcar ventricle sign

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15
Q

what is the boxcar ventricle sign

A

widening of the frontal horns of the lateral ventricle

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16
Q

when is HD usually fatal

A

within 15-20 years after presentation (due to disease progression)

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17
Q

any dementia that is primarily caused by cerebrovascular disease or impaired cerebral blood flow, or in which cerebrovascular disease or impaired cerebral blood flow is a contributing causative factor

A

vascular dementia

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18
Q

what is the most important risk factor in vascular dementia

A

HTN

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19
Q

what type of progression do we see in vascular dementia

A

stepwise progression

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20
Q

what is the second most common cause of dementia

A

vascular dementia

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21
Q

in vascular dementia, CT may show

A

lacunar infarcts

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22
Q

localized brain degeneration of the frontotemporal lobes

A

frontotemporal dementia

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23
Q

what is frontotemporal dementia also called

A

Pick’s disease

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24
Q

round or oval aggregates of Tau protein

A

pick bodies

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25
Q

in which type of dementia do we see socially inappropriate behavior

A

frontotemporal dementia

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26
Q

progressive dementia characterized by the diffuse presence of Lewy bodies

A

diffuse Lewy body disease/dementia

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27
Q

in what disease are Lewy bodies LOCALIZED

A

Parkinson disease

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28
Q

what are Lewy bodies composed of

A

alpha-synuclein proteins

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29
Q

core features of diffuse Lewy body disease

A

recurrent visual hallucinations
cognitive fluctuations
Parkinsonism
autonomic dysfunction (orthostatic hypotension, constipation, incontinence, erectile issues)

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30
Q

where do we see loss of dopaminergic neurons in Parkinson’s disease

A

striatum
substantia nigra

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31
Q

what bodies are present in PD

A

lewy bodies

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32
Q

when do we commonly see onset of PD

A

45-65 years

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33
Q

eosinophilic cytoplasmic inclusions

A

Lewy bodies

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34
Q

motor triad in PD

A

rigidity
tremor
bradykinesia

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35
Q

what type of tremor do we see in PD

A

resting tremor

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36
Q

what specific resting tremor do we see in PD

A

pill-rolling

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37
Q

when is tremor worse in PD

A

at rest
emotional stress
excitement
walking

38
Q

when is tremor better in PD

A

with voluntary activity
intentional movement
sleep

39
Q

bradykinesia

A

slowness of voluntary movement and decreased automatic movements

40
Q

what type of rigidity do we see in PD

A

cogwheel rigidity

41
Q

what type of walking pattern do we see in PD

A

festination = increased speed while walking

42
Q

what type of posture do we see in PD

A

stooped posture

43
Q

what reflexes are lost in PD

A

postural reflexes

44
Q

depression occurs in what percent of people with PD

A

40%

45
Q

is face mobile or immobile in PD

A

immobile (fixed facil expressions)

46
Q

Myerson’s sign/Glabellar’s sign in PD

A

tapping the bridge of the nose repetitively causes a sustained blink

47
Q

will serum ceruplasmin be increased or decreased in Wilson’s disease

A

decrease

48
Q

what spirochete causes syphilis

A

treponema pallidum

49
Q

how is syphilis transmitted

A

direct contact of a musculocuteanous lesion via sexual contact

50
Q

primary syphilis causes

A

chancre

51
Q

what is a chancre

A

solitary PAINLESS ulcer at or near the site of inoculation

52
Q

when does the chancre develop

A

2-3 weeks after exposure

53
Q

how long is the chancre there

A

10-90 days

54
Q

will lymphadenopathy be tender or non-tender in syphilis

A

non-tender

55
Q

for the maculopapular rash in SECONDARY syphilis, the involvement of what structures is common

A

involvement of palms and soles

56
Q

common cardiovascular finding in tertiary syphilis

A

aortitis

57
Q

demyelination of posterior columns and spinal roots is a finding in what disease

A

tabes dorsalis

58
Q

in what disease do we see Argyll-Robertson pupil

A

syphilis

59
Q

what is Argyll-Robertson pupil

A

bilateral, small, irregular pupils that constrict with accommodation but do not react (constrict) when exposed to bright light

60
Q

testing for syphilis

A

RPR (rapid plasma reagin)

61
Q

when is RPR usually positive

A

4-6 weeks after infection

62
Q

how do you CONFIRM syphilis in diagnosis

A

FTA-ABS

63
Q

what is the treatment of choice for all stages of syphilis

A

penicillin

64
Q

are symptoms usually symmetric or asymmetric in drug-induced PD

A

symmetric (which is opposite of PD)

65
Q

what is the most common type of dementia

A

Alzheimer’s disease

66
Q

when does Alzheimer’s disease typically onset

A

> 65 years old

67
Q

what are neurofibrillary tangles composed of in AD

A

tau protein

68
Q

what are senile plaques composed of in AD

A

amyloid beta protein

69
Q

what neurotransmitter is deficient in Alzheimer’s disease

A

acetylcholine (A=A)

70
Q

what regions/brain structures will likely be atrophied in AD

A

medial temporal lobe and hippocampus

71
Q

what two diseases are tauopathies/atypical Parkinson’s diseases

A

progressive supranuclear palsy
corticobasal degeneration

72
Q

in what disease due patients tend to have a surprised look due to dystonia of frontal and procures muscles

A

progressive supranuclear palsy

73
Q

in what disease do we see the hummingbird sign on brain MRI

A

progressive supranuclear palsy

74
Q

what is the hummingbird sign?

A

midbrain atrophy with preservation of pons

75
Q

Parkinsonism + autonomic dysfunction (urinary incontinence, sex dysfunction, orthostatic hypotension)

A

multiple systems atrophy

76
Q

in what disease do we see the hot cross buns sign

A

multiple systems atrophy

77
Q

what is the hot cross buns sign

A

degeneration of pontocerebellar fibers (so you will see this sign in the pons)

78
Q

what kind of affect do we tend to see in progressive supra nuclear palsy

A

pseudo bulbar affect – cry easily or laugh inappropriately

79
Q

most common cause of thiamine deficiency in the US

A

chronic alcohol use

80
Q

what type is most common in creutzfeldt-jakob disease

A

sporadic

81
Q

what sign will you commonly see on Creutzfeldt-jakob disease

A

double hockey stick/pulvinar sign

82
Q

when does Tourette’s syndrome typically onset

A

4-6 years

83
Q

tourettes syndrome may be due to

A

excess dopamine
decreased GABA

84
Q

in what part of the brain do we see those NT irregularities in Tourette’s syndrome

A

caudate nucleus

85
Q

most common symptom in Tourette’s syndrome

A

motor tics

86
Q

what type of poisoning can cause tremors

A

mercury

87
Q

between dementia and delirium, which is caused by an underlying medical disease

A

delirium

88
Q

which type of narcolepsy is without cataplexy

A

type 2

89
Q

what is cataplexy

A

loss of muscle tone

90
Q

what is the most frequently performed surgical procedure for PD

A

deep brain stimulation

91
Q

in PD, the skin is often described as

A

shiny, greasy, and with characteristic scarring acne

92
Q

what skin condition is very common in PD

A

seborrheic dermatitis

unit 3 disease charts (7 decks)

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