3.6 Flashcards

(92 cards)

1
Q

is Huntington’s disease autosomal dominant or recessive

A

autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

involuntary choreatic movements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what repeats do we see in Huntington’s disease

A

cytosine
adenine
guanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what chromosome is the Huntingtin gene on

A

chromosome 4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what population is more affected by Huntington’s disease

A

men and women are equally affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

when do symptoms of Huntington’s disease usually begin

A

between 30-50 years of age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

when do symptoms of juvenile HD present

A

< 20 years old

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

3 hallmark manifestations of HD

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

behavioral changes in Huntington’s disease

A

personality
cognitive
intellectual
psychiatric (including irritability)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

chorea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

when does chorea worsen in Huntington’s disease

A

with voluntary movements and stress

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

when does dementia develop in Huntington’s disease

A

usually before 50 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

putamen and caudate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what sign do we see in Huntington’s disease

A

boxcar ventricle sign

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is the boxcar ventricle sign

A

widening of the frontal horns of the lateral ventricle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

when is HD usually fatal

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what is the most important risk factor in vascular dementia

A

HTN

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what type of progression do we see in vascular dementia

A

stepwise progression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is the second most common cause of dementia

A

vascular dementia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

in vascular dementia, CT may show

A

lacunar infarcts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

localized brain degeneration of the frontotemporal lobes

A

frontotemporal dementia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

what is frontotemporal dementia also called

A

Pick’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

round or oval aggregates of Tau protein

A

pick bodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
in which type of dementia do we see socially inappropriate behavior
frontotemporal dementia
26
progressive dementia characterized by the diffuse presence of Lewy bodies
diffuse Lewy body disease/dementia
27
in what disease are Lewy bodies LOCALIZED
Parkinson disease
28
what are Lewy bodies composed of
alpha-synuclein proteins
29
core features of diffuse Lewy body disease
recurrent visual hallucinations cognitive fluctuations Parkinsonism autonomic dysfunction (orthostatic hypotension, constipation, incontinence, erectile issues)
30
where do we see loss of dopaminergic neurons in Parkinson's disease
striatum substantia nigra
31
what bodies are present in PD
lewy bodies
32
when do we commonly see onset of PD
45-65 years
33
eosinophilic cytoplasmic inclusions
Lewy bodies
34
motor triad in PD
rigidity tremor bradykinesia
35
what type of tremor do we see in PD
resting tremor
36
what specific resting tremor do we see in PD
pill-rolling
37
when is tremor worse in PD
at rest emotional stress excitement walking
38
when is tremor better in PD
with voluntary activity intentional movement sleep
39
bradykinesia
slowness of voluntary movement and decreased automatic movements
40
what type of rigidity do we see in PD
cogwheel rigidity
41
what type of walking pattern do we see in PD
festination = increased speed while walking
42
what type of posture do we see in PD
stooped posture
43
what reflexes are lost in PD
postural reflexes
44
depression occurs in what percent of people with PD
40%
45
is face mobile or immobile in PD
immobile (fixed facil expressions)
46
Myerson's sign/Glabellar's sign in PD
tapping the bridge of the nose repetitively causes a sustained blink
47
will serum ceruplasmin be increased or decreased in Wilson's disease
decrease
48
what spirochete causes syphilis
treponema pallidum
49
how is syphilis transmitted
direct contact of a musculocuteanous lesion via sexual contact
50
primary syphilis causes
chancre
51
what is a chancre
solitary PAINLESS ulcer at or near the site of inoculation
52
when does the chancre develop
2-3 weeks after exposure
53
how long is the chancre there
10-90 days
54
will lymphadenopathy be tender or non-tender in syphilis
non-tender
55
for the maculopapular rash in SECONDARY syphilis, the involvement of what structures is common
involvement of palms and soles
56
common cardiovascular finding in tertiary syphilis
aortitis
57
demyelination of posterior columns and spinal roots is a finding in what disease
tabes dorsalis
58
in what disease do we see Argyll-Robertson pupil
syphilis
59
what is Argyll-Robertson pupil
bilateral, small, irregular pupils that constrict with accommodation but do not react (constrict) when exposed to bright light
60
testing for syphilis
RPR (rapid plasma reagin)
61
when is RPR usually positive
4-6 weeks after infection
62
how do you CONFIRM syphilis in diagnosis
FTA-ABS
63
what is the treatment of choice for all stages of syphilis
penicillin
64
are symptoms usually symmetric or asymmetric in drug-induced PD
symmetric (which is opposite of PD)
65
what is the most common type of dementia
Alzheimer's disease
66
when does Alzheimer's disease typically onset
> 65 years old
67
what are neurofibrillary tangles composed of in AD
tau protein
68
what are senile plaques composed of in AD
amyloid beta protein
69
what neurotransmitter is deficient in Alzheimer's disease
acetylcholine (A=A)
70
what regions/brain structures will likely be atrophied in AD
medial temporal lobe and hippocampus
71
what two diseases are tauopathies/atypical Parkinson's diseases
progressive supranuclear palsy corticobasal degeneration
72
in what disease due patients tend to have a surprised look due to dystonia of frontal and procures muscles
progressive supranuclear palsy
73
in what disease do we see the hummingbird sign on brain MRI
progressive supranuclear palsy
74
what is the hummingbird sign?
midbrain atrophy with preservation of pons
75
Parkinsonism + autonomic dysfunction (urinary incontinence, sex dysfunction, orthostatic hypotension)
multiple systems atrophy
76
in what disease do we see the hot cross buns sign
multiple systems atrophy
77
what is the hot cross buns sign
degeneration of pontocerebellar fibers (so you will see this sign in the pons)
78
what kind of affect do we tend to see in progressive supra nuclear palsy
pseudo bulbar affect -- cry easily or laugh inappropriately
79
most common cause of thiamine deficiency in the US
chronic alcohol use
80
what type is most common in creutzfeldt-jakob disease
sporadic
81
what sign will you commonly see on Creutzfeldt-jakob disease
double hockey stick/pulvinar sign
82
when does Tourette's syndrome typically onset
4-6 years
83
tourettes syndrome may be due to
excess dopamine decreased GABA
84
in what part of the brain do we see those NT irregularities in Tourette's syndrome
caudate nucleus
85
most common symptom in Tourette's syndrome
motor tics
86
what type of poisoning can cause tremors
mercury
87
between dementia and delirium, which is caused by an underlying medical disease
delirium
88
which type of narcolepsy is without cataplexy
type 2
89
what is cataplexy
loss of muscle tone
90
what is the most frequently performed surgical procedure for PD
deep brain stimulation
91
in PD, the skin is often described as
shiny, greasy, and with characteristic scarring acne
92
what skin condition is very common in PD
seborrheic dermatitis