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