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BMB Lectures > Movement Disorders > Flashcards

Movement Disorders Flashcards

1
Q

How to Classify:
(You can look at these and diagnose them phenomenologically, however we’re better able to identify molecular and genetic characteristics now)

A
  • Distribution
  • Symmetry
  • Stereotyped? Always occurring the same way
  • Task Specific? (E.g. Always occur when writing)
  • Overflow?
  • Velocity
  • Continuous/intermittent
  • Relation to general voluntary movement
  • Relation to specific tasks
  • Suppressibility (can you suppress the movement?)
  • Distractibility
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2
Q

Hypokinesia

A

Paucity of movement

  • aka bradykinesia (slowness of movement. Can also mean change in amplitude or rhythm of the movement)
  • akinesia (loss of movement)
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3
Q

Hyperkinesia

A

excessive movements

  • aka dyskinesia (unnatural movements)
  • abnormal involuntary movements (AIMS)
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4
Q

Parkinsonism (Hypokinetic Movement Disorder)

-Prevalence

A

-102-190 per 100,000
-Incidence is 4.2-26 per 100,000
10 per 100,000 at age 50
200 per 100,000 at age 80
-Estimated that 50,000 new cases diagnosed each year in the US
-Somewhere between 500,000 and 1 million Americans with Parkinson’s Disease
—one of the most common neurologic disorders behind Alzheimer’s

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5
Q

Parkinson’s (pathology)

A
  • Primary pathology for the motor complications is attributed to degeneration of Dopaminergic neurons in the pars compacta of the substantia nigra
  • recent studies have suggested that pathologic changes (Lewy Bodies) may start in the dorsal motor nucleus of the vagus and the anterior olfactory nucleus, then the raphe nuclei and locus ceruleus before they involve the substantia nigra
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6
Q

Lewy Bodies

A

Pathological hallmark of Parkinson’s. It’s either pathogenic causing the disease or a reaction to other underlying problems which we haven’t identified
-1st start in the olfactory bulb and we find them in the mucosa in the colon as well. Earliest places. Gradually as the disease progresses goes to the substantia nigra and you see Motor symptoms (passes through locus ceruleus

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7
Q

Diagnosing Parkinson’s UK Brain Bank Criteria

A

Bradykinesia AND one of:

  • muscular rigidity
  • resting tremor (you don’t actually NEED this, 1/3 don’t have it)
  • postural instability not caused by primary visual, vestibular, cerebellar, or proprioceptive dysfunction
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8
Q

Non Motor Symptoms of PD

Can cause a lot more issues, much more efficient in treating motor symptoms

A 
Neuropsychiatric and cognitive
-depression (can precede motor symptom onset)
-anxiety
-apathy
-cognitive difficulty/dementia
-psychosis: often medication induced
-sleep disturbances (acting out one's dreams: REM sleep behavior disorder)
Autonomic
-constipation
-excessive sweating
-orthostasis/lightheadedness
-urinary dysfunction
-sexual dysfunction
-drooling
Sensory
-decreased or absent sense of smell
-pain
-numbness/tingling
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9
Q

Freezing of Gait

A
  • problem with initiating movement
  • get stuck or frozen to ground
  • sometimes respond to meds, sometimes don’t
  • tricks to improve/overcome like kicking a soccer ball (different part of the brain does this)
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10
Q

Site of Action of PD drugs

A

LevoDopa is most effective way to get more dopamine in the system (combine with carbidopa for efficiency)

  • dopamine agonists: activate postsynaptic receptors (pramipexole, ropinirole, apomorphine, rotigotine, bromocriptine)
  • MAO-B Inhibitors (selegiline, rasagiline, Safinamide)
  • Tolacapone and Entacapone inhibit COMT (tolacapone is more effective)
  • Anticholinergics have high side effect profile (trihexyphenidyl and benztropine)
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11
Q

Deep Brain Stimulation for PD

A
  • electrical stimulation of the basal ganglion. Mostly subthalamic nucleus and sometime globus pallidus internal segment
  • it mimics the effects of dopamine without taking meds and no side effect of meds
  • able to reduce amount of meds taken (CANNOT ELIMINATE med intake)
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12
Q

Continuous Infusion Therapies for PD

A
  • carbidopa and levodopa enteral suspension (gel is delivered at a continuous rate. helps with up and down fluctuations that can be disabling)
  • can’t get levodopa transdermally through the skin but apomorphine can
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13
Q

Differential Diagnosis of Parkinsonism

A

-Idiopathic Parkinson’s Disease
-Atypical Parkinsonism
Tauopathies (issues with the Tau protein)
Progressive supranuclear palsy (PSP)
Corticobasal degeneration (CBD)
Synucleinopathies
Multiple system atrophy (MSA)
Dementia with Lewy Bodies (DLB)
-Secondary Parkinsonism
Drug induced, vascular, normal pressure hydrocephalus, other causes
-Heredodegenerative Disorders including some spinocerebellar ataxias

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14
Q

Progressive Supranuclear Palsy (PSP)

A

-Procerus Sign (contraction like she has a surprised look)
-Supranuclear gaze palsy
-square wave jerks
-early postural instability with falls
You can see she has decreased facial expression
Characterized by degeneration of midbrain and occulomotor nucleus. Can’t do vertical eye movements (supranuclear part impaired)
Does have bradykinesia and low amplitude
Balance is a big difficulty. Not as response to levodopa and progresses faster
-you see atrophy of the midbrain on MRI

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15
Q

Corticobasal Degeneration (CBD)

A
  • Prominent asymmetric dystonia (contracting and pulling of the muscle, twisting)
  • no tremor
  • can have apraxia (difficulty figuring out how to perform complex movements), agraphesthesia, alien hand syndrome
  • MRI shows asymmetric posterior cortical atrophy
  • survival time is about 5 years
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16
Q

Multiple System Atrophy (MSA)

A
  • previously known as Shy-Drager Syndrome, Striato-nigral degeneration, or sporadic olivopontocerebellar atrophy
  • Parkinsonism with ataxia, autonomic symptoms
  • most closely mimics Parkinson’s clinically (but it takes a turn and worsens quickly)
  • ataxia here that’s not seen in Parkinson’s. MANY more autonomic symptoms
  • Entire brainstem atrophy, cerebellum atrophy, pontine cruciform hyperintensity, lateral putaminal atrophy
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17
Q

Dementia with Lewy Bodies (DLB)

A
  • dementia and parkinsonism with onset or near the same time (in Parkinson’s you usually get dementia onset at about the same time)
  • prominent visual hallucinations (often prior to initiation of Dopaminergic therapy)
  • fluctuating mental status within a day (and no overt cause for delirium)
  • paradoxical reaction to neuroleptic (cause an increase in hallucinations/psychosis)
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18
Q

Other Causes of Parkinsonism

A
  • drug-induced (dopamine blocker may cause: i.e. Anti nausea drug)
  • vascular (controversial, stroke in substantia nigra. Stroke occuring throughout the brain can cause symptoms that look like Parkinson’s
  • Normal Pressure Hydrocephalus
  • Some forms of Spinocerebellar ataxia
  • others
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19
Q

Tremor (Hyperkinetic Movement Disorders)

A
  • a rhythmic, involuntary oscillatory movement of a body part
  • range from high frequency and low amplitude physiologic tremor (different types characterized by frequency and amplitude)
20
Q

Essential Tremor

A

-postural and action tremor, mid-range frequency
-upper extremities commonly involved, also head, voice; leg tremor is uncommon
-dampens with alcohol
(Not much at rest. But when she does finger to nose, writing, holding a cup of water it’s there)
Causes:
-about half of all ET patients report a family member who also has a tremor
-one study looked at twins in which one twin had ET (60% identical twins both had ET and 27% fraternal twins)
-suggests that although genetics play a major role, there are likely other contributing factors

21
Q

Genetic Mutations of Essential Tremors

A

-several genetic mutations have been linked to ET thus far:
ETM1 on chromosome 3
ETM2 on chromosome 2
ETM 3 on chromosome 6
-however, subsequent studies to confirm these linkages have been mixed
-in any case, it’s likely these account for only a small percentage of essential tremor cases
-these don’t translate to other families. Probably multiple diff. Abnormalities that cause a similar phenotype

22
Q

Pathology and Tx for Essential Tremors

A

Path: Possibly swollen Purkinje cells? Inconsistent

Tx:

  • propranolol and primidone have been shown to clearly reduce tremor
  • other meds shown to be helpful are alprazolam, atenolol, gabapentin, sotolol, and topiramate
  • surgical treatments (DBS, thalamotomy) are effective (once propranolol and primidone haven’t had any benefit)
  • these meds try to dampen down excessive impulses in the brain
23
Q

Thalamic DBS for Essential Tremor

A
  • interrupting pathological firing of the thalamic nucleus will help reduce the tremor
  • very rapid treatment (in Parkinson’s it takes a while)
  • the more you increase the stimulation field, the more you impact other structures in the brain and can have other symptoms. It will limit you as time goes on
24
Q

DaT Scan

A

-nuclear med scan. Ligand is taken up by the dopamine transporter which is in the presynaptic dopaminergic terminal. Indirect measure of dopaminergic cell loss
-distinguish between essential tremor and Parkinson’s disease.
In ET: good uptake in the entire striatum.
In Parkinson’s: won’t have good uptake in either
-drug induced vs. idiopathic
If you have good uptake bilaterally but have Parkinson’s symptoms then you can determine it’s drug induced

25
Q

Chorea (Hyperkinetic Movement Disorder)

A
  • random, involuntary, purposeless, irregular and non-patterned movements that seem to flow from one body part to another
  • often accompanied by motor impersistence (negative chorea): i.e. Stick your tongue out then it goes back in. Or Milkmaid’s hand
  • dyskinesia is a form of chorea
26
Q

Causes of Chorea

A 
Huntington's disease
Sydenham' Chorea
Chorea gravidarum
SLE/antiphospholipid
Neuroacanthocytosis
Benign hereditary chorea
Dentatorubropallidoluysian Atrophy (DRPLA)
27
Q

Huntington’s Disease

A

Hx: onset was usually in middle age. Accompanied by personality changes (nervous excitement) and a cognitive decline (tendency to insanity). Very heritable condition from generation to generation
Genetic Defect: HD gene mapped to Chromosome 4. It’s a mutation of CAG-repeat expansion. CAG length correlates inversely with age of disease onset (higher CAG length=lower age of onset). CAG length is not necessarily correlated with disease severity or rate of progression of disease (anticipation from generation to generation can occur and usually when inherited from father)
Epidemiology: World-Wide prevalence is 5-10 per 100,000. As low as 0.1 per 100,000 in Japan. 25,000 affected in US with 125,000 at risk

Onset: mean age is 39 years but can range from 2-80 years
Duration: mean survival is 19 years and typical range is 15-25 years

28
Q

Clinical Symptoms of Huntington’s Disease

A

Movement abnormalities: chorea, motor impersistence, bradykinesia, dystonia, rigidity, oculomotor changes
Psychiatric changes: depression, anxiety, mood swings, OCD
Cognitive and intellectual changes
Non-classic features: weight loss and sleep disturbance
Eventually leads to dementia

29
Q

Juvenile onset Huntington’s Disease-Westphal Variant

A

Definition: younger than 20 y.o
Inheritance: 80-90% paternal inheritance
Clinical Manifestations: dystonia, bradykinesia, Parkinsonism

30
Q

Huntington’s Disease Tx

A 
Education
Genetic Counseling
Psychosocial support
Legal services
Disability review support
Lay support groups

Chorea: tetrabenazine (inhibits vesicular monoamine transporter (VMAT2)): it depletes dopamine in the synapse. Less likely to cause side effects than a dopamine blocker because you’re not actually causing a blockade (good option without mood issues)
Neuroleptic: Dopamine receptor blockers. Also helpful for psychosis
Depression: SSRIs

31
Q

Dystonia

A

-involuntary, sustained or spasmodic, repetitive, and patterned contractions of muscles, frequently causing twisting and other abnormal movements or postures
-both agonist and antagonist muscles contract simultaneously (co-contraction)
-commonly starts as action dystopia (not present at rest, but only when carrying out a voluntary action)
—-usually the agonist and antagonist contract at the same time (causing twisting)
—-these are task specific. Example is: writer’s cramp. When they start to write they have issues
—-Musicians can develop this
Genetics:
-The DYT classification includes inherited forms of dystonia that include: pure dystonia, dystonia with other movement disorders, paroxysmal dyskinesias
-Common forms of hereditary dystopia include:
DYT1-young onset, lower extremity, autosomal dominant, incomplete penetrate, torsinA mutation
DYT11-myoclonus-dystonia, mutations predominantly in the epsilon sarcoglycan gene
DYT5-dopa-responsive dystonia with tremor, parkinsonism, spasticity, diurnal variation, young onset
Pathophysiology:
-as a movement disorder, it was always thought to be a basal ganglion disorder (certainly common post-traumatic dystopia localizations are the thalamus or palladium)
-it’s now felt that primary dystopia is more of a neurodevelopmental circuit disorder involving cortico-striato-pallido-thalamo-cortical and cerebello-thalamo-cortical pathways
-disorder of deficient inhibition (resulting in this hyperkinetic movement disorder)
Normal inhibitor of motor pathways isn’t happening

32
Q

Cervical dystonia

A

Torticollis: rotation of the head around the axis
Laterocollis: tilting of the head from left to right
Antero- or Retrocollis: neck is flexed downward or extended backward

Important to figure out a head tremor because we want to know what muscles are involved. We treat with botulinum toxin

33
Q

Treatment of Dystonia

A

Childhood onset (and really any age) dystopia: give a trial of levodopa in case patient has a dopa-responsive dystonia

Anti cholinergics: tolerated better in pediatric dystopia

For dystonic tremor: nonspecific tremor reducers such as primidone, propranolol, gabapentin, clonazepam

34
Q

Botulinum Toxin (Review)

A

Inhibits SNARE protein complex from delivering the vesicle

Activity isn’t permanent. Lasts about 3 months. Kicks in around 5-6 days

35
Q

Myoclonus

A
  • Sudden, brief, shock-like involuntary movements
  • caused by muscle contractions (positive myoclonus) or inhibitions (negative myoclonus e.g. Asterixis-characterized by a sudden and violent loss of tone in the extensor muscles of the hand. The hand makes brief movements inward, resembling the beating of wings, when it’s supposed to be motionless)

Negative tremor is characterized by lack of muscle control (hepatic and renal issues).

-physiologic myoclonus: most common is hypnic (like when you start to go to sleep)
-cortical myoclonus: epileptic
Back-averaging the EEG demonstrates time-locked cortical event preceding myoclonic jerk on EMG
-essential myoclonus: most cases are hereditary, associated with dystopia, and now recognized as DYT11 with mutations in epsilon sarcoglycan

36
Q

Tics

A

Key features: stereotyped, simple or complex
Paroxysmal (spasm-like)
urge to perform
Release when performed
Suppressive (but can “build-up” when suppressed, then let out in a “flurry” when socially acceptable)
Can be motor or vocal

37
Q

Tourette’s Syndrome

A
  • Motor and vocal tics by age 18
  • not due to another illness
  • no prolonged remission but fluctuates in severity
  • OCD, ADHD, learning disabilities
  • highly heritable, gene(s) unknown

(Most of the time it’s uncommon to have an adult onset tic disorder. Most of the time they improve with age. Go away around 16 or 17. Treatment, esp. in kids, is reassurance. Movements generally aren’t disabling)

Pathophysiology:
-defective surround inhibition
-set of striatal Neurons becomes active inappropriately, causes unwanted inhibition of the “brake” for adjacent output neurons, lets a competing motor pattern through
(When you initiate a movement, other unwanted motor programs surrounding that are being inhibited. Here the inhibition isn’t working and you have leakage)

Genetics:

  • familial
  • autosomal dominant with incomplete penetrance suggested

Epidemiology:

  • prevalence: as high as 4.2% and as low as 0.03%
  • different ascertainment methods
  • different clinical criteria
  • different study populations
  • a third of patients are not aware of their tics

Tx:

  • alpha 2 adrenergic agonists (clonidine and guanfacine)-aren’t great but have least amount of side effects
  • clonazepam
  • neuroleptics
  • tetrabenazine
  • botulinum toxin
38
Q

Stereotypy

A
  • similar to tics but
  • —usual onset before age 3
  • —association with autistic spectrum disorders, mental retardation
  • —occur in certain emotional states (often happy, excited, overwhelmed, etc.)
  • —they just sort of happen, usually occur in emotional states
39
Q

Ballism

A
  • very large amplitude choreic movements of the proximal parts of the limbs, causing flinging or flailing body movements
  • most often unilateral (hemiballism)
Location of the lesion:
-studies debate over subthalamic nucleus
-extra-STN locations include:
    Putamen
    Caudate
    Globus Pallidus
    Thalamus 
    Outside basal ganglia 
    Cortex 
Causes:
    Vascular
    Metabolic 
    Neoplastic
    Post-surgical 
    Infectious 
    Other
  Most common: stroke, hyperglycemia 
--really anything that causes a lesion in the right part of the basal ganglia
40
Q

Paroxysmal Dyskinesia

A
  • involuntary, intermittent movements consisting of dystonia, chorea, athetosis, ballismus, or a combo of these
  • can be precipitated by sudden voluntary movement, exertion, sleep, stress, or can occur spontaneously

Demirkian and Jankovic Classification:

  1. Paroxysmal Kinesigenic Dyskinesia (PKD) onset induced by quick or rapid movement
  2. paroxysmal non-kinesigenic dyskinesia (PKND)
  3. Paroxysmal Exertion-induced dyskinesia (PED): develop symptoms after walking for a while maybe
  4. Paroxysmal Hypnogenic Dyskinesias (PHD): during sleep
    - related to different problems with synapse transmission and transport issues
41
Q

PLMS/RLS

A

-associated, but very different conditions

Periodic Leg Movements in Sleep: repetitive, stereotyped movements of the big toes, sometimes ankles, knees and hips during sleep

Restless Leg Syndrome: sensory disturbances of the leg which are relieved by movement (Dopamine Agonists help) gabapentin and other anti-epileptics can be helpful too

BOTH EFFECT SLEEP

42
Q

PLMT (painful legs moving toes)

A
  • initially described as spontaneous and purposeless movements of the toes and less often the feet and proximal leg muscles
  • they can volitionally stopped, but soon return
  • the toes movements consist of flexion/extension, abduction/adduction, a “clawing and straightening: and “fanning and circular movements” of the toes
  • they were continuous but waxing and waning
43
Q

Hyperekplexia

A
  • excessive startle in response to sudden unexpected stimuli
  • may be sporadic or familial
  • glycine receptor defect
  • hypertonia in infancy
  • head retraction reflex
44
Q

Hemifacial Spasm

A

Peripheral movement disorder caused by irritation of the 7th nerve

-causes unilateral facial contractions

Generally: for a focal issue we do botulinum toxin but we can use anti-epileptics

45
Q

Akathisia

A
  • inner, general restlessness, reduced or relieved by movement
  • complex and usually stereotyped movements (cross/uncross legs, rock in chair, pace, moan)
  • commonly a side effect of dopamine blockers
46
Q

Athetosis

A
  • slow, writhing, continuous involuntary movements
  • resembles “slow” chorea or moving dystonia
  • often seen in cerebral palsy
  • pseudoathetosis: distal athetoid movements of the fingers and toes due to loss of proprioception

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