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Flashcards in Movement Disorders Deck (74):
1

What is the average age of onset for PD?

55-65
(expect genetic etiology if occurs earlier)

2

What is the pathological hallmark of Parkinson's disease? What are these made of?

Lewy Bodies (cytoplasmic inclusion bodies made of alpha-synuclein--look like a fried egg)

3

What is the most frequent initial symptom of PD?

resting tremor (that disappears with movement)

4

What type of facial expression does a patient with PD have?

masked face (no emotion)

5

When do people with PD get postural instability?

VERY LATE in disease

6

What are the two most common non-motor features of PD?

Depression (40-50% adn may occur before motor features)
Anxiety (40%)

7

When do patient's with PD lost ability to carry out plans and make decisions (executive dysfunction)?

LATE in disease

8

List two symptoms of PD that can occur very early and be hints to the disease?

-Loss of olfaction
-Shoulder discomfort

9

What eye symptoms might a patient with PD have?

difficulty with UP-gaze

10

What is the prognosis for PD?

life expectancy with treatment is almost normal

11

What is the age of onset for progressive supranuclear palsy?

50-60 years (younger than PD)

12

What is the cause of progressive supranuclear palsy?

-Neuronal loss and gliosis of the SN, GP, etc.
-Atrophy of midbrain and cerebral cortex

13

What is the pathologic hallmark of progressive supranuclear palsy? What are these made of?

Neurofibrillary tangles (composed of straight filaments with abnormally phosphorylated tau protein)

14

What are features that progressive supranuclear palsy shares with PD?

Rigidity, Bradykinesia, Dysarthria (though occurs earlier and may be very severe), gait disturbance

15

What symptoms distinguish progressive supranuclear palsy from PD?

-LACK of tremor
-Astonished facial expression
-EARLY postural instability
-Difficulty with down-gaze
-Dementia that develops early

16

What is the characteristic eye feature of progressive supranuclear palsy?

Supranuclear gaze palsy (difficulty with down-gaze, apraxia of eyelid opening (can't open tightly closed eyes on command), but oculocephalic reflex is intact

17

What is the prognosis for progressive supranuclear palsy?

no treatment, so life expectancy is around 10 years after symptom onset

18

What is the age of onset for multisystems atrophy?

50-55

19

What is the underlying cause of multisystems atrophy?

Cell loss and gliosis of the SN and posterior putamen (cortex spared)

20

What is the pathologic hallmark of multisystems atrophy?

Glial cytoplasmic inclusion bodies (stain for alpha-synuclein)

21

What are the three groupings of presentation for multisystems atrophy?

-Parkinsonism
-Progressive autonomic failure
-Cerebellar syndrome

22

What symptoms of multisystems atrophy distinguish it from PD?

-LACK of tremor
-EARLY postural instability
-EARLY autonomic failure (orthostatic hypotention, urinary dysfunciton, constipation, impotence, thermoregulatory dysfunction)
-Respiratory stridor

23

What is a strange symptom of multisystems atrophy that may key you in to the diagnosis?

involuntary diagnosis

24

What symptom, if present, rules OUT mutlisystems atrophy?

DEMENTIA is NEVER with MSA

25

Which hypokinetic movement disorders have postiive Babinski signs?

PSP and MSA

26

Which hypokinetic movement disorders have hyper-reflexia?

MSA

27

What is the prognosis for MSA?

5-10 years after symptom onset

28

What is the age of onset for HD?

35-45

29

What is the underlying etiology of HD?

AD genetic disorder of HTT on short arm of chromosome 4 that codes for huntingtin

30

What is the pathology of HD?

-Neuronal loss and gliosis with atrophy (of striatum)
-Atrophy and neuronal loss of cortex

31

What is the hallmark early symptom of HD?

chorea (rapid, random, jerky movements giving person a "wiggly" appearance)

32

What is the early symptom of juvenile HD?

dystonia (parkinsonism)

33

Why do HD patients get dysarthria?

choreiform movements of the tongue and lips that interfere with speech

34

What are the non-motor symptoms of HD?

-Personality change (impulsive or obsessive)
-Depression (increased suicide rate)
-Dementia (of planning, organizing, executive function)

35

What is the prognosis for HD?

life expectancy after symptom onset is 15-20 years

36

What is the age of onset for Tourette's syndrome?

between 2-15 years (if older than 18, NOT Tourette's)

37

Is Tourette's more common in girls or boys?

boys (3X more common)

38

What is the etiology of Tourette's?

unknown

39

What is the characteristic pathology of Tourette's?

unknown; but pathology may lie in the prefrontal cortex

40

List some simple motor tics.

muscle jerk, head shaking, eye blink, lip pouting

41

List come complex motor tics.

Echopraxia- involuntary imitation of movements
Copropraxia- involuntarily gesturing obscenely
Clapping
Jumping
Throwing

42

What precedes a motor tic?

a premonition or urge

43

List some simple vocal tics.

sniff, grunt, hiss, bark, clearing throat

44

List some complex vocal tics.

Echolalia- involuntary repeating others
Palilalia- involuntary repeating of own words
Coprolalia-involuntary swearing (only 10%)

45

What are sensory tics?

unusual, transient somatic sensations close to skin (ex. itch, tickle, or tightness that triggers intentional movement)

46

What are the behavioral problems seen with Tourette's?

ADHD (35-90%)
OCD (30-50%)

47

What is the prognosis of Tourette's?

good, symptoms usually disappear by adulthood

48

Who gets primary generalized dystonia?

Ashkenazi jews

49

How does primary dystonia differ from secondary dystonia?

Primary due to specific gene mutation or unknown etiology; secondary due to underlying disease process

50

What is the presentation of someone with primary dystonia?

Focal (initially), sustained msucle contraction that produces a sustained and twisting movement that results in abnormal posture (PAINFUL)

51

What is the major mutation/gene that leads to primary generalized dystonia?

AD mutation of DYT1 on chromosome 9 (deletion of Torsion A protein)

52

How does focal dystonia differ from generalized dystonia?

Focal is limited to a single muscle group while generalized is distributed throughout the body

53

In what muscles does focal dystonia usually occur?

Muscles above waist

54

What is blepharospasm?

Focal dystonia leading to involuntary eye closure and functional blindness

55

What is oromandibular focal dystonia?

forced mouth closure or opening

56

What is laryngeal focal dystonia?

strained/strangled speech or breathy/whispering speech

57

What is spasmodic torticollis?

cervical dystonia

58

How might a generalized dystonia present?

action-induced dystonia (like when you plantar flex)

59

What type of gait is seen in generalized dystonia?

"dromedary gait" (exaggerated hip abduction and knee hyperextension)

60

What cognitive effects are seen in primary dystonia?

NONE! (cognition, strength and sensation remain normal)

61

What is the only example of a mixed hypokinetic-hyperkinetic disorder?

Wilson's disease

62

When is the onset of Wilson's disease?

10-20 is normal
(those with hepatic symptoms present earlier than those with neurologic symptoms)

63

What type of disease is Wilson's disease (genetically)?

AR disease

64

What gene is mutated in Wilson's disease?

ATP7B gene on long arm of ch 13

65

What is the role of the ATP7B gene?

codes for a copper-transporting ATPase in the liver

66

What is the pathophysiology of Wilson's disease?

mutated copper-transporting ATPase preents copper from getting put into the bile, so copper escapes the liver and deposits in the brain

67

What is the pathologic hallmark of Wilson's disease?

Opalski cells (altered glial cells) in the basal ganglia

68

What is the lab abnormality seen in Wilson's disease?

reduced serum ceruloplasm (copper carrier) with decreases total serum copper (though free copper is elevated)

69

How do you definitely diagnose Wilson's disease?

liver biopsy (for hepatic copper levels)

70

What is the most frequent mode of clinical presentation in Wilson's disease?

hepatic dysfunction (ex. transient hepatitis, acute fulminant hepatitis, progressive cirrhosis)

71

What neurologic symptoms can be seen in Wilson's disease?

-Intentional tremor
-Parkinsonism
-Chorea
-Dystonia
-Dsyarthria
-Uncoordination

72

What psychiatric symptoms are seen in Wilson's disease?

-Personality change
-Depression
-Mania
-Psychosis
-RARE dementia

73

What are 2 clinical signs of Wilson's disease?

Kayser-Fleischer rings (copper in cornea--seen in all patients with neuro-psych symptoms)
Sunflower cataracts (copper in lens)

74

Which Wilson's disease patients have the worst prognosis?

those with acute fulminant hepatitis