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Flashcards in Movement Disorders Deck (65):
1

Movement Disorders

-result of dysfunction or damage to portions of the brain (basal ganglia)
-to little movement (hypokinetic)
-to much unwanted movement (hyperkinetic)
-mixed movement disorders

2

Function of the Basal Ganglia

-Modulate Movement
Facilitate intended movements
Suppress unwanted movements

3

Hypokinetic Movement Disorders

-Parkinson's disease
-Progressive supranuclear palsy
-Multiple system atrophy

4

Parkinson's Disease: Demographics

-common neurological disease
100 per 100,000 people (2000 in above age 60)
-unknown etiology, genetic factors important if onset before age 50, others important if later (env.)
-typical age of onset: 55-65
-life expectancy (with treatment) nears normal
-10% develop symptoms before 40

5

Parkinson's Disease: Neurologic Features

-asymmetric onset - eventually bilateral
-primary extrapyramidal features:
1. rest tremor
2. rigidity - inc. muscle tone in passive movement
3. bradykinesia - hard to start/stop movement, slow to cary out, hard to repeat motion
4. postural instability (late), balance impairment

6

Parkinson's Disease: Motor Features

-secondary extrapyramidal features
-masked face - dec. facial expression
-diminished blink frequency
-stooped posture
-small-stepped, shuffling gait
-reduced armswing
-hypokinetic dysarthria - softer, slurred speech
-micrographia - smaller handwriting

7

Parkinson's Disease: Non-Motor Features

-depression 40-50%, may precede motor
-anxiety 40%
-cognitive impairment (frontal lobe (executive)) with progression: if early not it
-executive: difficulty making decisions & carrying out plans

8

Parkinson's Disease: Autonomic Dysfunction

-Gastrointestinal: constipation
-Urinary: over/under activing
-Sexual: ED in men, dec. libido
-Cardiovascular: orthostatic HTN
-Thermoregulatory: sweating

9

Parkinson's Disease: Others

-olfactory dysfunction
-visual dysfunction
-sensory symptoms (pain)
-Sleep disturbances (sleep fragmentation, REM sleep behavior disorder)
-Fatigue

10

Parkinson's Disease: Pathologic Features

-degeneration of pigmented neurons
-substantia nigra pars compacta
-locus ceruleus
-dorsal vagal nucleus
-Lewy body formation (cytoplasmic inclusion bodies) "fried egg" appearance
-central/enteric nervous system
-protein: alpha-synuclein (synucleinopathies)

11

Parkinson's Disease: Neurochemical Features

-Dopamine deficiency (nigrostriatal, mesolimbic, hypothalamic, retinal)
-Norepinephrine
-Serotonin
-Glutamate

12

Progressive Supranuclear Palsy

-characterized by features of Parkinsonism but some additional ones
-Parkinsonism-plus syndrome

13

Progressive Supranuclear Palsy: Demographics

-sporadic
-prevalence is 1-6.5 per 100,000
-onset 50-60
-life expectancy is ~10 yrs

14

Progressive Supranuclear Palsy: Neurologic Features

Extrapyramidal Features
-Rigidity: especially axial rigidity, may produce neck hyperextension, symmetric
-Bradykinesia
-"Astonished" facial expression
-Dysarthria
-gait disturbance (early)
-postural instability (falling) (early)
-tremor is unusual

15

Progressive Supranuclear Palsy: Behavioral Features

-emotional lability
-dementia

16

Progressive Supranuclear Palsy: Ophthalmologic Features

-supranuclear gaze palsy
-vertical (downwardgaze) first (messy eater, "dirty tie" sign, difficulty descending stairs
-horizontal later
-oculocephalic reflex intact
-apraxia of eyelid opening (hard to open when asked, can do it spontaneously)

17

Progressive Supranuclear Palsy: Other Neurologic Features

-pyramidal tract signs (Babinski sign)
-sleep disturbances

18

Progressive Supranuclear Palsy: Pathologic Features

-Midbrain & cerebral cortical atrophy
-Neuronal loss & gliosis (multiple areas)
-Neurofibrillary tangles (globose type), composed of unpaired straight filaments, contain abnormally phosphorylated tau protein (tauopathy)

19

Progressive Supranuclear Palsy: Neurochemical Features

-striatal domamine deficiency
-dec. ACh, GABA, Norepinephrine

20

Multiple System Atrophy

-Parkinsonism-plus syndrome

21

Multiple System Atrophy: Demographics

-Sporadic
-Prevalence is 2.3-5.7 per 100,000
-symptom onset typically age 50-55
-life expectancy is ~5-10 yrs

22

Multiple System Atrophy: Neurologic Featuers

-present: parkinsonism, autonomic failure, or cerebellar syndrome
-Extrapyramidal (89%)
-Rigidity
-Bradykinesia
-Postural instability (early)
-Tremor is unusual

23

Multiple System Atrophy: Neurologic: Autonomic

78%
-urinary dysfunction
-orthostatic HTN
-impotence (males)
-gastrointestinal dysfunction
-thermoregulatory dysfunction

24

Multiple System Atrophy Neurologic - Cerebellar

55%
-ataxia
-dysarthria
-oculomotor abnormalities
-exaggerated rebound

25

Multiple System Atrophy: Neurologic - Pyramidal

61%
-hyperreflexia
-Babinski responses
-Spasticity
-Psuedobulbar palsy

26

Multiple System Atrophy: Neurologic - Behavioral

22%
-personality changes
-depression
-cognitive dysfunction (frontal lobe executive dysfunction)
-dementia typically does not develop

27

Multiple System Atrophy: Neurologic - Other

-respiratory stridor, vocal cord abductor weakness, 33%, inc. sudden nocturnal death
-involuntary sighing
-Raynaud's phenomenon
-postural myoclonus of the hands

28

Multiple System Atrophy: Pathologic Features

-Cell loss & Gliosis: basal ganglia, brainstem, cerebellum, spinal cord
-Glial cytoplasmic inclusion bodies
-alpha-synuclein

29

Multiple System Atrophy: Neurochemical Features

-not well characterized

30

Hyperkinetic Movement Disorders

-Huntington's disease
-Tourette's Syndrome
-Primary (idiopahtic) Dystonia

31

Huntington's Disease: Demographics

-autosomal dominant inheritance (mutation on short arm of chromosome 4, expanded trinucleotide repeat, codes for "huntingtin" protein
-onset 35-45
-younger age of onset associated with more rapid course
-after symptoms: life 15-20 yrs

32

Huntington's Disease: Neurologic - Extrapyramidal

-chorea is common early
-dystonia emerges as disease progresses
-hyperkinetic dysarthria
-Parkinsonism (juvenile form is onset)
-Parkinsonism (advanced disease in adults)

33

Chorea

-rapid, random jerky movements that seem to flow from one movement into another & impart a restless "wiggly" or dancing appearance to patient

34

Dysarthria

-result of choreiform movements of the tongue & lips interfering with speech

35

Huntington's Disease: Neurologic - Behavioral

-personality changes (impulsiveness, irritability, obsessive behavior, aggression)
-depression
-dementia (executive dysfunction, impairment of planning, organizing, reasoning, abstraction, judgement)

36

Huntington's Disease: Other Features

-Oculomotor Disturbances (difficulty initiating saccades, slowed saccades, glazed impersistence)
-Cachexia

37

Huntington's Disease: Pathologic Features

-striatum (especially caudate), atrophy, neuronal loss, gliosis
-cortex - atrophy, neuronal loss

38

Tourette's Syndrome: Demographics

100-1000 per 100,000
-genetic mutation identified in a small fraction of patients; suspected in many more
-3:1 male predominance
-symptom onset b/w age 2-15
-symptoms often diminish in adulthood
-normal life expactancy

39

Tourette's Syndrome: Clinical Features

-Motor tics (stereotypic, sudden movements), may be simple or complex, preceded by a premoition or urge, may be temporarily suppressed
-Vocal (phonic) tics - similar to motor tics but involve sound rather than movement
-Sensory tics - may occur
-Tics vary in location, frequency, character, & severity over time

40

Tourette's Syndrome: Formal Diagnostic Criteria

-Multiple motor tics & at least one vocal tic must be present at some point during the course, though not necessarily concurrently
-Tics must occur many times per day, almost every day or intermittently over the course of more than a year, wit no tic-free period of greater than 3 consecutive months
-Onset must be before age 18
-The disorder must not be explained by any other condition

41

Motor Tics

Simple: muscle jerks, head shaking, shoulder shrugging, eye blinking, lip pouting
complex: jumping, throwing, clapping, touching, echopraxia (mimic others movement), copropraxia (obscene or forbidden gestures)

42

Vocal Tics

Simple: sniffing, grunting, barking, hissing, clearing throat
Complex: words, phrases, sentences, echolalia (mimic vocal), palilalia (rapid repetition or echoing of one's own words), coprolalia (swearing or obscene derogatory words)

43

Tourette's Syndrome: Behavioral Features

-Attention deficit hyperactivity disorder: 35-90% of children with TS
-Obsessive-Compulsive disorder: 30-50% of persons with TS

44

Tourette's Syndrome: Pathologic Features

-no abnormality has been identified y

45

Tourette's Syndrome: Neurochemical Features

-no definitive abnormality
-some dopaminergic disturbance suspected
-others: monoaminergic (norepinephrine, serotonin,), opioid, adenosine

46

Dystonia

-sustained muscle contraction that produces sustained, & sometimes repetitive, twisting movements that result in abnormal posture

47

Dystonia can be Classified by?

-Etiology: primary (unknown) & secondary (disease)
-Topographic distribution: generalized (muscles throughout the body) & focal (only one or a group)

48

Dystonia: Demographics

-estimated prevalence is 3 per 100,000
-onset during childhood
-Ashkenazi Jews
-autosomal dominant inheritance (DYT1 gene mutation on chromosome 9, glutamate deletion in the protein, Torsin A, penetrance rate is 30-40%)
-other mutations have also been identified

49

Dystonia: Neurologic Features

-focal onset
-initially is action dystonia
-lower extremity usually involved first (ankle inversion, plantar flexion of the toes)
-axial muscles subsequently involved
-gait & posture abnormalities develop "dromedary" appearance to gain, exaggerated hip abduction, knee hyperextension"
-eventually these postures become fixed
-dystonia remains sole feature (except for tremor in some)

50

Dystonia: Pathologic Features

-no consistent abnormality
(basal ganglia or cerebellum is origin)

51

Dystonia: Neurochemical Features

-no consistent abnormality
-some studies show: dopamine, norepinephrine, GABA

52

Primary Focal Dystonia: Demographics

-adult onset
-traditionally considered to be sporadic
-genetic basis recently has been identified in some
-30 per 100,000

53

Primary Focal Dystonia: Neurologic Features

-various muscle groups affected
-muscles are usually above the waist
-typically progress over several years, then static
-may be task-specific
-may be relieved by sensory tricks
-Cranial dystonia (Blepharospasm, Oromandibular, Laryngeal (spasmodic dysphonia))
-Cervical Dystonia (spasmodic torticollis)
-Limb Dystonia (Writer's cramp, Musician's dystonia)

54

Primary Focal Dystonia: Pathologic Features

-no consistent abnormality

55

Primary Focal Dystonia: Neurochemical Features

-no consistent abnormality

56

Mixed Hypokinetic-Hyperkinetic Movement Disorders

-Wilson's Disease

57

Wilson's Disease: Demographics

-3 per 100,000
-1 in 90 is a carrier
-autosomal recessive inheritance (mutation long arm of chromosome 13, gene product is ATP7B, copper-transporting APTase, 380 mutations identified)

58

Wilson's Disease: Presentation

-onset 10-20, early as 3, late as 70s
-clinical presentation:
hepatic, neurologic, psychiatric

59

Wilson's Disease: Hepatic Features

-acute transient hepatitis
-acute fulminant hepatitis
-chronic active hepatitis
-progressive cirrhosis

60

Wilson's Disease: Neurologic Features

-parkinsonism
-chorea
-dystonia
-kinetic (intention) tremor
-dysarthria
-incoordination

61

Wilson's Disease: Psychiatric Features

-personality change
-depression
-mania
-psychosis
-dementia

62

Wilson's Disease: Ophthalmologic Features

-Kayser-Fleischer rings: brown pigment around the outer rim of the cornea (Cu deposits in Descemet's membrane)

-Sunflower Cataracts: only seen on slit-lamp exam, due to Cu deposits in the lens

63

Wilson's Disease: Pathologic Features

-Cu deposition in various tissues
-Hepatic fibrosis & cirrhosis
-Neuronal loss & gliosis (putamen, thalamus, cerebral cortex)
-Opalski cell formation (may originate from degenerating astrocytes)

64

Opalski Cell

Seen in Wilson's Disease

65

Wilson's Disease: Chemical Features

-dec. serum ceruloplasmin
-inc. serum free copper (dec. serum total copper, because of dec. ceruloplasmin)
-inc. urinary copper
-inc. hepatic Cu