NUPY 3_Movement disorders

Question 1

4 signs of parkinsonism

Answer 1

Bradykinesia
Rigidity
Resting tremor
Postural instability

Question 2

most common cause of Parkinsonism

Answer 2

Idiopathic Parkinson disease

Question 3

Pathogenesis of Parkinson disease

Answer 3

Degenerative loss of dopaminergic neurons in the substantia nigra pars compacta

Question 4

signs of bradykinesia in Parkinson disease

Answer 4

masked facial expressions
micrographia

Question 5

Gross morphologic feature of Parkinson disease

Answer 5

Pallor of substantia nigra due to loss of the pigmented dopaminergic neurons

Question 6

Describe the microscopic morphology of idopathic Parkinson disease

Answer 6

Lewy bodies- cytoplasmic, round to elongated eosinophilic inclusions containing alpha-synuclein, dense core surrounded by a pale halo

Question 7

Diagnosis?
* Shuffling gait, resting tremor, mask like face
* Dementia within first year of onset of above symptoms
* Visual hallucinations
* Fluctuating cognitive status

Answer 7

Dementia with Lewy body disease

Question 8

Difference in pattern of Lewy body accumulation in idopathic Parkinson versus Dementia with Lewy body disease

Answer 8

Idiopathic Parkinson disease- Lewy bodies concentrated mainly in basal ganglia
Dementia with Lewy body disease - diffuse pattern of Lewy body accumulation

Question 9

Diagnosis?
* 65 year old male
* history of frequent falls while climbing up stairs
* bradykinesia, shuffling gait, resting tremor
* difficulty with reading due to inability to look upward

Answer 9

Progressive supranuclear palsy

Question 10

Radiologic finding in progressive supranuclear palsy on a sagittal MRI

Answer 10

disproportionate atrophy of the dorsal midbrain- hummingbird sign

Question 11

Radiologic finding in progressive supranuclear palsy on an axial MRI

Answer 11

atrophic dorsal midbrain that gives rise to the “mouse ears” (also “Mickey mouse”) appearance

Question 12

genetic mutation associated with idiopathic Parkinson disease

Answer 12

Mutation of the gene that encodes alpha-synuclein (SNCA gene); Misfolded alpha-synuclein accumulates and forms aggregates thata re toxic to neurons

Question 13

2 dopamine antagonists associated with drug induced parkinsonism

Answer 13

antipsychotics
metoclopramide

Question 14

• Tremor present on initiating an action and with certain posture but absent at rest
• Usually associated with a positive family history
• Reduces with propranolol (non selective beta blocker)

Answer 14

Essential tremor

Question 15

3 examples of focal dystonias

Answer 15

• Cervical dystonia- torticollis
• Blepharospasm
• Writer’s cramp

Question 16

Mechanism of action of most likely treatment of focal dystonias

Answer 16

Botulinum toxin injection- prevents presynaptic release of acetylcholine into the neuromuscular junction

Question 17

nonrhythmic, irregular muscle contractions appearing to flow from 1 muscle group to the next, dance-like quality

Answer 17

Chorea

Question 18

2 acquired causes of chorea

Answer 18

1. Sydenham chorea
2. Tardive dyskinesia

Question 19

Diagnosis?
* 46 year old male
* forgetfulness
* depression, suicidal thoughts
* non-rhythmic, rapid, graceful, irregular muscle contractions with a dance-like quality in upper extremities
* history of similar symptoms in father

Answer 19

Huntington disease

Question 20

Pathogenesis of Huntington disease

Answer 20

Mutant huntingtin–> GABAnergic neuronal loss in the caudate & putamen

Question 21

Genetic basis of Huntington disease

Answer 21

Mutation of HTT gene on chromosome 4–>CAG trinucleotide repeat expansion

Question 22

Identify this genetic phenomenon
In Huntington disease, paternal transmission is associated with earlier onset in subsequent generation

Answer 22

anticipation

Question 23

Gross morphology of Huntington disease

Answer 23

Atrophy of the caudate nucleus and putamen
Dilation of the third and lateral ventricles

Question 24

Diagnosis?
* History of tretament with typical antipsychotics
* Rigidity+fever+autonomic instability+altered mental status
* elevated serum creatine kinase

Answer 24

Neuroleptic malignant syndrome

Question 25

Drug used in treatment of neuroleptic malignant syndrome

Answer 25

Dantrolene - Prevents release of Ca2+ from sarcoplasmic reticulum of skeletal muscle by inhibiting the ryanodine receptor

Question 26

Neurologic manifestations of Wilson disease

Answer 26

* Onset in 2nd-3rd decade * Parkinsonism symptoms * Wing-beating tremor * dysarthria, dystonia, ataxia * depression/ psychosis/ personality change

Question 27

Gross morphology of neurologic involvement in Wilson disease

Answer 27

cystic degeneration of the putamen (softening)

Question 28

Identify this finding

Answer 28

copper deposition in the irises of the eyes - Kayser-Fleischer rings Seen in WIlson disease

Question 29

Genetic basis of Wilson disease

Answer 29

Mutations in the *ATP7B* gene --> abnormal copper accumulation--> organ dysfunction (liver and brain)

Question 30

Lab test findings in Wilson disease

Answer 30

* low ceruloplasmin levels * elevated 24-hour urine for copper * MRI- basal ganglia hyperintensities