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81 Cards in this Set
- Front
- Back
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What is direct pathway?
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Striatum stimulates GPi and SNr which disinhibit thalamus --> increased initiation and maintenance of movement
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What is indirect pathway?
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Striatum stimulates GPe and STN which inhibit thalamus --> less movement.
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What does substantia nigra pars compacta do?
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Stimulates direct pathway (D1 receptors) and inhibits indirect pathway (D2 receptors).
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Name 3 alpha-synuclein disorders
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(1) Parkinson's
(2) Diffuse Lewy Body Dementia (3) MSA |
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What is abnormal protein in Parkinson's?
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Alpha-synuclein
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What is abnormal protein in Diffuse Lewy Body Dementia?
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Alpha-synuclein
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What is direct pathway?
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Striatum stimulates GPi and SNr which disinhibit thalamus --> increased initiation and maintenance of movement
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What is abnormal protein in multiple system atrophy?
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Alpha-synuclein
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What is indirect pathway?
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Striatum stimulates GPe and STN which inhibit thalamus --> less movement.
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Name 3 poly-glutamine (CAG repeat) disorders
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(1) Huntingdon's
(2) DRPLA (3) SCA |
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What does substantia nigra pars compacta do?
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Stimulates direct pathway (D1 receptors) and inhibits indirect pathway (D2 receptors).
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What is genetic anomaly in Huntingdon's?
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CAG repeat on 4p16.3. < 28 reps normal, > 40 reps disease. Huntingtin is abnormal protein.
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Name 3 alpha-synuclein disorders
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(1) Parkinson's
(2) Diffuse Lewy Body Dementia (3) MSA |
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What is abnormal protein in corticobasal degeneration?
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4 repeat tau
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What is abnormal protein in Parkinson's?
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Alpha-synuclein
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What is abnormal protein in Diffuse Lewy Body Dementia?
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Alpha-synuclein
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What is abnormal protein in multiple system atrophy?
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Alpha-synuclein
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Name 3 poly-glutamine (CAG repeat) disorders
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(1) Huntingdon's
(2) DRPLA (3) SCA |
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What is genetic anomaly in Huntingdon's?
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CAG repeat on 4p16.3. < 28 reps normal, > 40 reps disease. Huntingtin is abnormal protein.
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What is abnormal protein in corticobasal degeneration?
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4 repeat tau
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What is toxic protein in Progressive Supranuclear Palsy?
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4 repeat tau
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What is toxic protein in frontotemporal dementia w/ parkinsonism?
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4 repeat tau
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3 classes of drugs that can cause parkinsonism.
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(1) Anti-psychotics (eg Haldol)
(2) Anti-emetics (Metoclopramide) (3) Dopamine depleters (eg Tetrabenazine) |
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3 toxins that can cause parkinsonism
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(1) Acute CO poisoning
(2) Acute MPTP (3) Manganese |
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What is toxic protein in Progressive Supranuclear Palsy?
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4 repeat tau
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2 viral illnesses that can present w/ parkinsonism
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(1) West Nile
(2) Japanese encephalitis |
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What is toxic protein in frontotemporal dementia w/ parkinsonism?
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4 repeat tau
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Presentation of manganese toxicity.
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Symmetric parkinsonism not responsive to dopa. Often have dystonic features and oculogyric crisis.
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3 classes of drugs that can cause parkinsonism.
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(1) Anti-psychotics (eg Haldol)
(2) Anti-emetics (Metoclopramide) (3) Dopamine depleters (eg Tetrabenazine) |
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Epidemiology of essential tremor
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6 in 100 000. Multimodal age onset -- adolescence, early adulthood, > 60s
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3 toxins that can cause parkinsonism
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(1) Acute CO poisoning
(2) Acute MPTP (3) Manganese |
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Clinical features of essential tremor
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5-12 Hz freq. Absent at rest, elicited w/ movement or postures. Mostly upper limbs, can affect writing. Voice or head can be affected.
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2 viral illnesses that can present w/ parkinsonism
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(1) West Nile
(2) Japanese encephalitis |
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What is frequency of essential tremor?
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5-12 Hz
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Presentation of manganese toxicity.
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Symmetric parkinsonism not responsive to dopa. Often have dystonic features and oculogyric crisis.
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Treatment options for essential tremor (3)
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(1) Alcohol (2/3 respond)
(2) Beta-blockers (propanolol) (3) Anti-convulsants (primidone, topiramate, gabapentin) |
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Epidemiology of essential tremor
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6 in 100 000. Multimodal age onset -- adolescence, early adulthood, > 60s
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Clinical features of essential tremor
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5-12 Hz freq. Absent at rest, elicited w/ movement or postures. Mostly upper limbs, can affect writing. Voice or head can be affected.
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What is frequency of essential tremor?
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5-12 Hz
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Treatment options for essential tremor (3)
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(1) Alcohol (2/3 respond)
(2) Beta-blockers (propanolol) (3) Anti-convulsants (primidone, topiramate, gabapentin) |
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3 syndromes that can have acanthocytes
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(1) Neuroacanthocytosis
(2) Abetalipoproteinemia (3) McLeod syndrome |
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Presentation of neuroacanthocytosis
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- Onset 8-62 yrs
- Stereotyped orofacial dyskinesias, chorea, parkinsonism, seizures (50%) - Often autosomal recessive inheritance |
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Genetic abnormality in McLeod syndrome
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X-linked recessive mutation in XK gene (Kell antigen)
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Onset of McLeod syndrome
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Age 50
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What is an acanthocyte?
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Contracted erythrocyte with thorny projections
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3 syndromes that can have acanthocytes
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(1) Neuroacanthocytosis
(2) Abetalipoproteinemia (3) McLeod syndrome |
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Presentation of McLeod syndrome
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- CK increased
- Axonal peripheral neuropathy - Limb chorea |
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Presentation of neuroacanthocytosis
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- Onset 8-62 yrs
- Stereotyped orofacial dyskinesias, chorea, parkinsonism, seizures (50%) - Often autosomal recessive inheritance |
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What is genetic anomaly in PKAN?
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Mutation in PANK2 gene on chr 20.
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Genetic abnormality in McLeod syndrome
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X-linked recessive mutation in XK gene (Kell antigen)
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What is characteristic neuroimaging finding in PKAN?
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"Eye of the tiger" sign -- hypointensity in globus pallidus w/ surrounding hyperintensity on T2.
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Onset of McLeod syndrome
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Age 50
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Pathophysiology of PKAN
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Neurodegeneration w/ brain iron accumulation. Pantothenate kinase is a regulatory enzyme involved in coenzyme A synthesis.
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What is an acanthocyte?
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Contracted erythrocyte with thorny projections
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4 subtypes of neurodegeneration w/ brain iron accumulation
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"PAIN"
PKAN Aceruloplasminemia Infantile neuroaxonal dystrophy Neuroferritinopathy |
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Presentation of McLeod syndrome
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- CK increased
- Axonal peripheral neuropathy - Limb chorea |
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What is genetic anomaly in PKAN?
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Mutation in PANK2 gene on chr 20.
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What is characteristic neuroimaging finding in PKAN?
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"Eye of the tiger" sign -- hypointensity in globus pallidus w/ surrounding hyperintensity on T2.
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Pathophysiology of PKAN
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Neurodegeneration w/ brain iron accumulation. Pantothenate kinase is a regulatory enzyme involved in coenzyme A synthesis.
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4 subtypes of neurodegeneration w/ brain iron accumulation
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"PAIN"
PKAN Aceruloplasminemia Infantile neuroaxonal dystrophy Neuroferritinopathy |
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Clinical presentation of PKAN
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Childhood onset w/ insidious onset of gait disorder and dystonia. Rigidity, dysarthria, spasticity, dementia, retinitis pigmentosa, optic atrophy may all be present
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Clinical presentation of PKAN
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Childhood onset w/ insidious onset of gait disorder and dystonia. Rigidity, dysarthria, spasticity, dementia, retinitis pigmentosa, optic atrophy may all be present
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Genetic anomaly in Wilson's disease
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13q14.3 mutation in ATP7B gene. Autosomal recessive.
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Genetic anomaly in Wilson's disease
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13q14.3 mutation in ATP7B gene. Autosomal recessive.
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Epidemiology of Tourette's
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- Age of onset 5-15 yrs (peak 7)
- 3-4x higher in males |
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Epidemiology of Tourette's
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- Age of onset 5-15 yrs (peak 7)
- 3-4x higher in males |
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Diagnostic Criteria For Tourette's (5)
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(1) Onset before 18 yrs
(2) Both motor and vocal tics present at some point (3) Variation in pattern of tics (4) Tics at least daily (5) Tics present for > 1 yr |
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Diagnostic Criteria For Tourette's (5)
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(1) Onset before 18 yrs
(2) Both motor and vocal tics present at some point (3) Variation in pattern of tics (4) Tics at least daily (5) Tics present for > 1 yr |
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Mechanism of action of clonidine
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Alpha-2 adrenergic agonist (increases NE release)
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Mechanism of action of clonidine
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Alpha-2 adrenergic agonist (increases NE release)
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Work up for Sydenham's chorea
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ASOT, ECG, echo, cardiology consult
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Work up for Sydenham's chorea
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ASOT, ECG, echo, cardiology consult
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Jones criteria for rheumatic fever
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(1) Joints - Polyarthritis
(2) Heart - Carditis (3) Nodules (4) Erythroderma nodosum (5) Sydenham's chorea * 2 major or 1 major and 2 minor * Minor: Fever, arthralgia (if no arthritis), ESR/CRP increased, leukocytosis, heart block on ECG, previous rheumatic fever or inactive heart dx |
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Jones criteria for rheumatic fever
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(1) Joints - Polyarthritis
(2) Heart - Carditis (3) Nodules (4) Erythroderma nodosum (5) Sydenham's chorea * 2 major or 1 major and 2 minor * Minor: Fever, arthralgia (if no arthritis), ESR/CRP increased, leukocytosis, heart block on ECG, previous rheumatic fever or inactive heart dx |
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Treatment for Sydenham's chorea
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(1) Valproic acid
(2) Clonidine ** Need longterm Pen G prophylaxis |
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Treatment for Sydenham's chorea
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(1) Valproic acid
(2) Clonidine ** Need longterm Pen G prophylaxis |
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How long after strep pharyngitis do symptoms of rheumatic fever present?
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3 weeks
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How long after strep pharyngitis do symptoms of rheumatic fever present?
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3 weeks
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Mechanism of action for Artane (Trihexiphenidyl)
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Anti-cholinergic (anti-muscarinic)
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Mechanism of action for Artane (Trihexiphenidyl)
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Anti-cholinergic (anti-muscarinic)
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Sketch the basal ganglia pathways.
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