Movement Disorders pt 1 (complete) Flashcards by Amanda Romeu

What presents with unilateral resting tremor, cogwheel rigidity, bradykinesia, and hypomimia?

Parkinson’s disease

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What symptoms can present years before classic PD symptoms appear?

REM sleep behavior disorder, constipation, and anosmia

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Psychiatric co-morbidity in PD

Major depression

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Diagnosis criteria for PD with dementia (Parkinsons +)

PD for at least 1 year before the onset of dementia symptoms

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Gene mutation present in 10% of familial PD and 5% of sporadic PD

LRRK2 mutations (autosomal dominant)
Most common in North African Arabs

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Parkinson’s pathologic findings

Alpha-synuclein inclusions/Lewy bodies primarily within the substantia nigra and locus coeruleus

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How are dopamine transporter (DAT-SPECT) scans used for PD?

Measures the availability of striatal dopamine

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How are PET scans for 11F or 11C dopa used for PD?

Measure dopa decarboxylase activity while PET scans for 11C DTBZ assess vesicular monoamine transporter-2 activity

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α-synucleinopathies

Parkinson disease (PD)
Multiple system atrophy (MSA)
Dementia with Lewy bodies (DLB)

Marked clinically by parkinsonism and pathologically by deposition of α-

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Gold standard for PD diagnosis

Post-mortem pathology
Atrophy of dopaminergic cells in the substantia nigra and accumulation of α-synuclein in Lewy bodies and neurites in the brain

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What drugs can cause drug induced parkinsonism?

Antipsychotics
* chlorpromazine, prochlorperazine, risperidone, clozapine, etc.
Antiemetics (metoclopramide)
Lithium
SSRIs
Valproic acid
Phenytoin

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Is drug induced parkinsonism always resolved with medication resolution?

Usually but not always

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Symptoms of restless leg syndrome

Uncomfortable sensation in the legs and irresistible urge to move legs, worse at night/periods of rest and relieved by movement

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What are the tauopathies?

Progressive Supranuclear Palsy
Corticobasal Degeneration
Frontotemporal with Parkinson linked to chromosome 17

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Symptoms of PSP

Parkinsonism (asymmetric limb rigidity)
Behavioral changes
Early falls
Vertical gaze palsy
Impaired smooth oculomotor pursuit

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PSP imaging findings

Atrophy of the midbrain tegmentum, corpus callosum, and anterior cingulate gyrus
Known as hummingbird or penguin sign

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PSP pathology

Globose neurofibrillary tangles in the brainstem and ganglia. Tufted astrocytes

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Characteristics of physiologic tremor

Low frequency, high amplitude tremor that involves the hands: no other associated disorder
Can be worsened by sympathetic activity: drinking coffee, SSRIs

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What medication increase physiologic tremor

Adrenergic agonists
Lithium
Tricyclics
Levodopa
Nicotine
Xanthines
Antidepressants
Corticosteroids
VPA
Bromides

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Frequency of a PD tremor:

4-6 Hz, low amplitude

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Characteristics of spinocerebellar ataxia type 1:

Starts around 30-40 yo
Progressive cerebellar ataxia
Dysarthria
Bulbar dysfunction

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Mode of inheritance for spinocerebellar ataxias:

Autosomal dominant

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Characteristics of spinocerebellar ataxia type 7:

Similar to type 1 with seizures, myoclonus and retinal degeneration
Presents in teenagers/young adults

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Dentatorubral pallidoluysian atrophy (DRPLA) is caused by:

CAG trinucleotide repeat expansion of the polyglutamine receptor on atrophin-1 (ATN-1) gene on chromosome 12p

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MRI findings for Dentatorubral pallidoluysian atrophy (DRPLA)

Cerebellar and brainstem atrophy, calcification of the basal ganglia and leukodystrophic changes

What are the pathologic characteristics of corticobasal degeneration?

Widespread neurodegeneration and deposits of hyperphosphoralated tau in neurons, glia, astrocytic plaques and corticobasal inclusions

Classic presentation of corticobasilar degeneration:

Asymmetric rigidity Dystonia Ideomotor apraxia

Neuroimaging findings for corticobasal degeneration:

Asymmetric frontoparietal atrophy

Where are D2 receptors preferentially located?

Mesolimbic and mesocortical pathways

Does PSP respond to levodopa?

Rarely

How does corticobasal degeneration present?

Early limb (usually asym) apraxia -> focal frontal and parietal lobe dysfunction Rigidity, agraphesthesia, and aphasia

Imaging in corticobasal degeneration

Atrophy of the perisylvian region and asymmetrical metabolism between hemispheres

Pathology of corticobasal degeneration

Ballooned neurons and astrocytic plaques

What is Frontotemporal Dementia with Parkinsonism Linked to Chromosome 17 (FTDP-17)?

Parkinsonism with early behavioral and personality changes and cognitive impairment

What is the gene linked with FTDP-17?

Chromosome 17 (MAPT gene) Autosomal dominant

How does lewy body dementia present?

Triad: Cognitive decline Symmetric parkinsonism Visual hallucinations - Other features like REM behavior disorder, neuroleptic sensitivity, falls, syncope and depression can be seen

Lewy body dementia imaging

Occipital hypometabolism on PET imaging

Lewy body dementia pathology

Eosinophilic cytoplasmic inclusions composed of alpha-synuclein inclusions/Lewy bodies - Spongiform changes in the temporal lobes may also be present

How does multiple systems atrophy present?

Parkinsonism Cerebellar dysfunction Pyramidal tract signs Autonomic dysfunction (typically beginning with bladder and erectile dysfunction, with prominent orthostasis on examination)

Imaging findings in multiple system atrophy

“Hot Cross Bun” sign in the pons showing loss of pontocerebellar fibers

Pathology of multiple system atrophy

Alpha-synuclein inclusions/Lewy bodies Glial intracytoplasmic inclusions (gliosis) within oligodendroglia Neuronal loss

What are the 3 variants of MSA?

MSA-A: Autonomic feature predominant MSA-P: Parkinson’s feature predominant MSA-C: Cerebellar ataxia predominant

What pathway is affected in the basal ganglia in hyperactive movement disorders?

Indirect

How does huntington's disease present?

Choreiform movements Psychiatric problems Neurocognitive deficits - often develop depression as well

Genetics of huntington's disease

AD Gene location 4p16.3 "Anticipation"

What gene change must be present for huntington's disease to have full penetrance?

Trinucleotide repeats >40 CAG

What age should testing be done with concern for huntington's disease?

18 and older

Imaging findings for huntington's disease

Caudate atrophy

Pathology for huntington's disease

Selective loss of spiny neurons (GABAergic inhibitory cells) in the caudate nucleus and intranuclear inclusions of huntingtin and ubiquitin

Average age of onset for huntington's disease

40 yo

What ages and setting does sydenham chorea occur?

5 to 18 yo One to eight months after having streptococcal pharyngitis

Percentage of pt that will develop sydenham chorea with rheumatic fever?

40%

How does sydenham chorea present?

Asymmetric but often bilateral choreiform movements, emotional lability, and hypotonia

What risk do female pts have after having sydenham chorea?

Developing recurrent chorea in the setting of hormone therapy or pregnancy (chorea gravidarum)

How is generalized (primary) dystonia described?

Focal, multifocal, segmental, hemidystonia, or generalized

Genetics associated with generalized (primary) dystonia

Torsin A gene (DYT1) on chromosome 9

Initial presentation of torsin A gene related primary dystonia

Action induced dystonia in early childhood

Geste antagoniste/sensory trick

A voluntary maneuver, such as touching the face, neck, or limb which can temporarily reduce the severity of dystonic posture

How does dopa-responsive dystonia present?

Childhood as progressive dystonia of the lower extremities without any other significant comorbidities

Which sex does dopa-responsive dystonia affect more?

Female

What time of day is dopa-responsive dystonia the worst?

Worse at the end of the day - diurnal

Genetics of dopa-responsive dystonia

Gene GTP cyclohydrolase I (GCH1) Generally AD Associated with the enzyme guanosine triphaosphate cyclohydrase

How is an acute dystonic reaction characterized?

Involuntary contractions of major muscle groups, such as cervical and limb dystonia or oculogyric crisis and opisthotonos

What are some triggers for an acute dystonic reaction?

Dopamine antagonists (metoclopramide, prochlorperazine)

What is lesch-nyhan syndrome due to?

Hypoxanthine-guanine phosphoribosyltransferase deficiency Leads to Increased serum and urine uric acid levels

What symptoms are present with lesch-nyhan and what age?

Hypotonia, developmental delay starting around 4 month Dystonia starts around 8-12 months Self-injurious behavior (lip/tongue biting, headbanging, etc.)

What is an enhanced physiologic tremor?

Low-amplitude, high-frequency (6-12 Hz) tremor at rest and action

What can make an enhanced physiologic tremor worse?

Anxiety or stress

Medication which can cause drug induced tremor

Amiodarone Lithium Selective serotonin reuptake inhibitors Caffeine Valproic acid Immunosuppressants (tacrolimus, cyclosporine) Dopamine antagonists (haloperidol, thioridazine)

How does an orthostatic tremor present?

High-frequency (14-16 Hz) postural tremor in the legs only appreciated while standing

Criteria for tourette's syndrome

Two or more motor and one or more vocal tics, though not necessarily concurrently, for >1 year before the age of 18

When is a dic disorder considered a provisional (transient) tic disorder?

Symptoms are present for less than a year then self-resolve

What is hemiballismus?

Sudden, violent, involuntary, flinging movements involving the arm and/or leg

Movement Disorders pt 1 (complete) Flashcards

(73 cards)