3.6 Flashcards
is Huntington’s disease autosomal dominant or recessive
autosomal dominant
what types of movements do we see in Huntington’s disease
involuntary choreatic movements
what repeats do we see in Huntington’s disease
cytosine
adenine
guanine
what chromosome is the Huntingtin gene on
chromosome 4
what population is more affected by Huntington’s disease
men and women are equally affected
when do symptoms of Huntington’s disease usually begin
between 30-50 years of age
when do symptoms of juvenile HD present
< 20 years old
3 hallmark manifestations of HD
mood (behavior and mood changes)
movement (chorea)
memory (dementia)
behavioral changes in Huntington’s disease
personality
cognitive
intellectual
psychiatric (including irritability)
brief, abrupt, involuntary or arrhythmic movements of the face, neck, trunk, and limbs
chorea
when does chorea worsen in Huntington’s disease
with voluntary movements and stress
when does dementia develop in Huntington’s disease
usually before 50 years
what will be atrophied on MRI or CT in a person with Huntington’s disease
putamen and caudate
what sign do we see in Huntington’s disease
boxcar ventricle sign
what is the boxcar ventricle sign
widening of the frontal horns of the lateral ventricle
when is HD usually fatal
within 15-20 years after presentation (due to disease progression)
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
vascular dementia
what is the most important risk factor in vascular dementia
HTN
what type of progression do we see in vascular dementia
stepwise progression
what is the second most common cause of dementia
vascular dementia
in vascular dementia, CT may show
lacunar infarcts
localized brain degeneration of the frontotemporal lobes
frontotemporal dementia
what is frontotemporal dementia also called
Pick’s disease
round or oval aggregates of Tau protein
pick bodies
in which type of dementia do we see socially inappropriate behavior
frontotemporal dementia
progressive dementia characterized by the diffuse presence of Lewy bodies
diffuse Lewy body disease/dementia
in what disease are Lewy bodies LOCALIZED
Parkinson disease
what are Lewy bodies composed of
alpha-synuclein proteins
core features of diffuse Lewy body disease
recurrent visual hallucinations
cognitive fluctuations
Parkinsonism
autonomic dysfunction (orthostatic hypotension, constipation, incontinence, erectile issues)
where do we see loss of dopaminergic neurons in Parkinson’s disease
striatum
substantia nigra
what bodies are present in PD
lewy bodies
when do we commonly see onset of PD
45-65 years
eosinophilic cytoplasmic inclusions
Lewy bodies
motor triad in PD
rigidity
tremor
bradykinesia
what type of tremor do we see in PD
resting tremor
what specific resting tremor do we see in PD
pill-rolling
when is tremor worse in PD
at rest
emotional stress
excitement
walking
when is tremor better in PD
with voluntary activity
intentional movement
sleep
bradykinesia
slowness of voluntary movement and decreased automatic movements
what type of rigidity do we see in PD
cogwheel rigidity
what type of walking pattern do we see in PD
festination = increased speed while walking
what type of posture do we see in PD
stooped posture
what reflexes are lost in PD
postural reflexes
depression occurs in what percent of people with PD
40%
is face mobile or immobile in PD
immobile (fixed facil expressions)
Myerson’s sign/Glabellar’s sign in PD
tapping the bridge of the nose repetitively causes a sustained blink
will serum ceruplasmin be increased or decreased in Wilson’s disease
decrease
what spirochete causes syphilis
treponema pallidum
how is syphilis transmitted
direct contact of a musculocuteanous lesion via sexual contact
primary syphilis causes
chancre
what is a chancre
solitary PAINLESS ulcer at or near the site of inoculation
when does the chancre develop
2-3 weeks after exposure
how long is the chancre there
10-90 days
will lymphadenopathy be tender or non-tender in syphilis
non-tender
for the maculopapular rash in SECONDARY syphilis, the involvement of what structures is common
involvement of palms and soles
common cardiovascular finding in tertiary syphilis
aortitis
demyelination of posterior columns and spinal roots is a finding in what disease
tabes dorsalis
in what disease do we see Argyll-Robertson pupil
syphilis
what is Argyll-Robertson pupil
bilateral, small, irregular pupils that constrict with accommodation but do not react (constrict) when exposed to bright light
testing for syphilis
RPR (rapid plasma reagin)
when is RPR usually positive
4-6 weeks after infection
how do you CONFIRM syphilis in diagnosis
FTA-ABS
what is the treatment of choice for all stages of syphilis
penicillin
are symptoms usually symmetric or asymmetric in drug-induced PD
symmetric (which is opposite of PD)
what is the most common type of dementia
Alzheimer’s disease
when does Alzheimer’s disease typically onset
> 65 years old
what are neurofibrillary tangles composed of in AD
tau protein
what are senile plaques composed of in AD
amyloid beta protein
what neurotransmitter is deficient in Alzheimer’s disease
acetylcholine (A=A)
what regions/brain structures will likely be atrophied in AD
medial temporal lobe and hippocampus
what two diseases are tauopathies/atypical Parkinson’s diseases
progressive supranuclear palsy
corticobasal degeneration
in what disease due patients tend to have a surprised look due to dystonia of frontal and procures muscles
progressive supranuclear palsy
in what disease do we see the hummingbird sign on brain MRI
progressive supranuclear palsy
what is the hummingbird sign?
midbrain atrophy with preservation of pons
Parkinsonism + autonomic dysfunction (urinary incontinence, sex dysfunction, orthostatic hypotension)
multiple systems atrophy
in what disease do we see the hot cross buns sign
multiple systems atrophy
what is the hot cross buns sign
degeneration of pontocerebellar fibers (so you will see this sign in the pons)
what kind of affect do we tend to see in progressive supra nuclear palsy
pseudo bulbar affect – cry easily or laugh inappropriately
most common cause of thiamine deficiency in the US
chronic alcohol use
what type is most common in creutzfeldt-jakob disease
sporadic
what sign will you commonly see on Creutzfeldt-jakob disease
double hockey stick/pulvinar sign
when does Tourette’s syndrome typically onset
4-6 years
tourettes syndrome may be due to
excess dopamine
decreased GABA
in what part of the brain do we see those NT irregularities in Tourette’s syndrome
caudate nucleus
most common symptom in Tourette’s syndrome
motor tics
what type of poisoning can cause tremors
mercury
between dementia and delirium, which is caused by an underlying medical disease
delirium
which type of narcolepsy is without cataplexy
type 2
what is cataplexy
loss of muscle tone
what is the most frequently performed surgical procedure for PD
deep brain stimulation
in PD, the skin is often described as
shiny, greasy, and with characteristic scarring acne
what skin condition is very common in PD
seborrheic dermatitis
