18 Motor Diseases Flashcards
What is life expectancy of someone with PD?
almost normal
Which motor disease has an asymmetric onset?
parkinsons
Describe presentation of Parkinson’s.
assymetric dysfunction and onset. Tremor at rest that disappears with movment rigidity bradykinesia postural instability (late) micrographia (small handwriting) small-step gait (Shuffle) masked face, less blinking stooped posture Executive cognitive dysfunction Autonomic dysfunction (dysphagia, GI immotility, bladder over or underactivity, ED, impaired BP regulation, and thermoregulation proglems) impaired olfaction blurred near-vision sleep fragmentation (REM sleep acting out) Lewy Boy (cytoplasmic inclusion bodies) upward gaze difficulty
What should early presentation of postural instability make you think?
that there is something besides plain parkinson, such as MSA (multiple system atrophy) or PSP (progressive supranuclear palsy)
What is the primary componenet of lewy bodies?
alpha-synuclein
What are lewy bodies hallmark indicators of?
parkinsons (fried egg appearance), or lewy body dementia
Besides dopamine, what other neurotransmitter systems are affected in parkinsons?
NE, serotonin, glutamate
What is treatment for PSP?
there is none. Life expectancy is only 10 years
When would balance distrubances present in PSP?
early, in contrast to parkinsons
Is tremor present in PSP?
No, as opposed to parkinsons which has stable tremor
Is PSP asymetric or symmetric?
symmetric
What is supranuclear gaze palsy diagnostic for?
PSP has trouble with downward gaze (in contrast to parkinsons where they have trouble looking up). May also have trouble keeping eyelids open.
Which motor disease would babinski sign (a sign of pyramidal tract involvement) make you think?
PSP
Neurofibrillary tangles (globose type)
= PSP, or possibly alzheimer’s
Which hypomotility syndrome has a younger onset age (50-55)?
MSA.
What is life expectancy after symptom onset for MSA?
5-10 years
Can MSA have tremor?
yest but not common. (makes it hard to distinguish from PD)
Does MSA have postural instability? If so is it early or late?
early postural instability
What is hallmark of MSA?
progressive autonomic failure (cardiovascular dysfunction, orthostatic hypotension, urogenital dysfunction). All more severe than in PD and with earlier onset.
Does dementia happen in MSA?
No. It is considered exclusionary feature for MSA diagnosis.
What are glial cytoplasmic inclusion bodies indicative of?
MSA. (they satin for alpha synuclein like PD)
What is genetic componenet of huntingtons?
HTT gene contains trinucleotide CAG repelat sequence to produce protein called huntingtin (HTT), which causes neuronal damage
What is typical onset age for huntingtons?
35-45 and gets younger in successive generations
What is life expectancy for huntingtons?
15-20 years after symptoms
What is chorea usually indiciative of? WTF is chorea?
huntingtons. chorea is random, jerky movments that seem wiggly or dancing.
WhatWhat are some of the eye dysfunctions of huntingtons?
difficulty initiating saccades and maintaining gaze
Where is neuronal loss especially evident in huntingtons?
caudate and putamen
Is tourettes more common in males or females?
3x more likely in M
What is life expectancy for tourretes?
normal
Onset age of tourrettes?
2-15
Do tics in TS change?
yes. They change over time.
What must be present for diagnosis of tourrettes?
multiple motor tics (at least one vocal) that occur multiple times per day almost every day for at least a eyar with no tic-free period greater than 3 months
What is echopraxia?
involuntary repetition of another persons movemnt (echo=repeat, praxia= move)
copropraxia?
involuntary obscene gestures
cop = copulate/vulgar, praxia = move/gesture
Echolalia?
repetition of vocalizations from others
echo=repeat, lalia = lalala/sound
Palilalia?
repitition of ones own words.
coprolalia?
swearing or obscene words
copro = copulate/vulgar, lalia =lalal/vocal
Is coprolalia common in TS?
no. only 10%, even though it is a major stereotype for TS.
What is dystonia?
susatined muscle contarction
What is primary dystonia?
etiology unknown dystonia or due to specific gene mutation
What is secondary dystonia?
underlying disease process responsible for dystonia
What is genetic componenet of primary generalized dystonia?
DYT1 gene mutation on chromosome 9, causes mutated Torsin A (glutamate deletion) GAG.
Autosomal dominant with varying penetrance
What is clinical course of primary generalized dystonia?
starts at young age. focal onset typically in lower extremities first, spreads up axial musculature to upper limbs.
Dromedary appearance
What is clinical course of primary focal dystonia?
adult onset, no genetic basis, typically starts in upper body, sometimes various muscle groups, may be task specific and relieved by sensory tricks (tapping face), possible blepharospasm (eye closing involuntary)
Genetics of Wilsons Disease?
autosomal recessive mutation on long arm of chromosome 13 produces ATP7B product which is a copper transporting ATPase. Normally it would transport copper from liver to apo-ceruloplasmin to form ceruloplasmin so copper accumulates in liver.
What is onset age of wilsons?
10-20
What is most frequent nuerologic presenting feature of WD?
tremor
What are sunflower cataracts indicative of?
WD
What are oplaski cell formations? What do they mean?
altered glial cell found in basal ganglia of individuals with WD. Looks a little like a black-eyed pea
What is single most sensitive and accurate test for WD bsides genetic testing?
elevated hepatic copper levels.
What will happen to serum free copper in WD? to serum total copper?
free copper increases but total decreases because the ceruloplasmin that carries it is decreased.
