Movement Disorders

Question 1

Basal ganglia made of…

Answer 1

Caudate, putamen, substantia nigra, sub-thalamic nucleus, globus pallidus

Question 2

Hypokinetic movement disorders (3)

Answer 2

Parkinson’s disease, progressive supranuclear palsy, motor systems atrophy

Question 3

Life expectancy in PD

Answer 3

Normal

Question 4

Motor features of PD

Answer 4

unilateral at onset; TRAP: tremor, rigidity, akinesia/bradykinesia, postural instability (late)

Question 5

Other features of PD

Answer 5

can’t look up, autonomic dysfunction, masked face, less blinking, stooped, shuffling gait, hypokinetic dysarthritis (soft voice), micrographia

Question 6

Behavioral features of PD

Answer 6

Depression, anxiety, cognitive impairment

Question 7

Pathology of PD

Answer 7

Degeneration of substantia nigra par compacta; Lewy bodies (alpha synuclein aggregates)

Question 8

Life expectancy of PSP

Answer 8

10 years

Question 9

Motor features of PSP

Answer 9

Like PD but NO tremor and early postural instability (loss of balance/falls), more axial rigidity and neck extension

Question 10

Other features of PSP

Answer 10

Astonished face, supranuclear gaze palsy (can’t look down), apraxia of eyelid, Babinski signs, sleep disturbances, emotional lability

Question 11

Pathology of PSP

Answer 11

Midbrain, cortical atrophy, neurofibrillary tangles, abnormal tau proteins

Question 12

Life expectancy of MSA

Answer 12

5-10 years

Question 13

Motor symptoms of MSA

Answer 13

Similar to PD, tremor unusual, early postural instability

Question 14

Clinical hallmark of MSA

Answer 14

Autonomic dysfunction

Question 15

Other features of MSA

Answer 15

Cerebellar dysfunction (ataxia, dysarthria, oculomotor), hyperreflexia, Babinski, spasticity, psuedobulbar palsy

Question 16

Behavioral features of MSA

Answer 16

Cognitive dysfunction, depression, NOT dementia

Question 17

Pathology of MSA

Answer 17

Cell loss and gliosis; glial cytoplasmic inclusions

Question 18

Huntington’s mutation and genetics

Answer 18

CAG repeat sequence in HTT gene of short arm of chr 4; autosomal dominant with anticipation over generations

Question 19

Age onset? Life expectancy of HD?

Answer 19

Age onset 35-45; life expectancy 15-20 years

Question 20

Motor symptoms of MSA

Answer 20

Chorea (early), dystonia/rigidity (late)

Question 21

Juvenile HD

Answer 21

Very long CAG repeats, early onset Parkinsonism

Question 22

Oculomotor dysfunction in HD

Answer 22

Difficulty initiating saccades, slowed saccades, difficulty maintaining gaze

Question 23

Pathology of HD

Answer 23

Neuronal loss and gliosis w/ cortical atrophy

Question 24

Onset of Tourette’s syndrome

Answer 24

Age 2-15

Question 25

Clinical features of TS

Answer 25

Motor tics (echopraxia, copropraxia), vocal tics (echolalia, palilalia, coprolalia), sensory tics

Question 26

Behavioral features of TS

Answer 26

ADHD, OCD

Question 27

Mutation in primary generalized dystonia

Answer 27

Mutation in DYT1 gene on chr 9 (GAG deletion); found in Ashkenazi Jews

Question 28

Clinical features of primary generalized dystonia

Answer 28

Focal, action dystonia, lower extremity involved first then axial muscles; gait/posture abnormalities, dromedary gait

Question 29

Clinical features of primary focal dystonia

Answer 29

Involvement of arm, neck, or face muscles; alleviated by sensory tricks

Question 30

Other features of focal dystonia

Answer 30

Blepharospasm (sustained eye closure), forced mouth closing/opening, laryngeal dystonia

Question 31

Mutation in Wilson's disease

Answer 31

Mutation in ATP7B on chr 13

Question 32

Neurologic features of Wilson's

Answer 32

Both hypo and hyperkinetic movement, tremor most common, Parkinsonism, dysathria

Question 33

Psychiatric features of Wilson's

Answer 33

Personality change, depression, mania, psychosis, dementia (rare)

Question 34

Opthlamoloic features of Wilson's

Answer 34

Kayser-Fleischer rings, sunflower cataracts

Question 35

Pathology of Wilson's

Answer 35

Neuronal loss and gliosis (putamen, thalamus cortex), Opalski cell

Question 36

Chemical features of Wilson's

Answer 36

Decreased ceruloplasm, increased free copper, decreased total copper