Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neuro Boards > Movement Disorders > Flashcards

Movement Disorders Flashcards

1
Q

DYT1 DYSTONIA

A

AD DUE TO GAG DELETION IN TOR1A GENE
increased prevalence in Ashkenazi Jews
Inversion of foot is first sign, occurs around 10 yo.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

DYT 5 (Dopa-Responsive) Dystonia

A

Gait dysfunction in childhood
Symptoms have diurnal variation: worsen as day goes on and Improve after nap

Multiple etiologies:

  • GTP Cyclohydrolase 1 deficiency from mutations on GCH1 gene; AD
  • tyrosine hydroxylase deficiency from mutation in TH gene; AR. (Tyrosine hydroxylase catalyzes the rate limiting step of dopamine synthesis , the conversion of tyrosine to levodopa)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

DYT 11 (Myoclonus-Dystonia)

A

AS
mutation in epsilon-sarcoglycan gene on chrom 7q
presents in child hood. Myoclonus primarily in neck, trunk and arms
Dystonia usually involves the arm or neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

DYT 12 (Rapid Onset Dystonia-Parkinsonism)

A

dystonia and parkinsonism develop over days to weeks

mutation in ATP1A3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Abetalipoproteinemia/Bassen Kornsweig Syndrome

A 
Progressive ataxia due to vitamin E deficiency 
Also with retinitis pigmentosa, steatorrhea, acanthocytosis and low triglyceride and cholesterol levels
NO CARDIOMYOPATHY (how to differ from Friedreich's Ataxia)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Ataxia with Isolated Vitamin E Deficiency (AVED)

A

aka Friedreich-like Ataxia bc phenotype similar.

Vitamin E deficiency due to mutation in gene encoding ATTP on chrom 8q

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Ataxia Telangiectasia

A 
ATM gene on chrom 11q-DS DNA repair defect
Truncal ataxia
eye telangiectasia at ~3-5 yo
skin telangiectasias
recurrent simupulmonary infections
Abnormal movements: athetosis, tremor, myoclonus
can dev polyneuropathy
cancer risk
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

dentatorubral-pallidoluysian atrophy (DRPLA)

A

AD ataxia
found primarily in Japan, in US, found in North Carolina
expansion of CAG repeat in ATN1 on chrom 12
Age <20: present as progressive myoclonic epilepsy
age >20 yo: ataxia, choreoathetosis, dementia, psychosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Episodic ataxia 1 vs Episodic ataxia 2

A

EA1: KCNA1 gene on chrom 12; myokymia, attacks last minutes

EA2: CACNA1A gene on chrom 19; nystagmus, acetazolamide responsive; starts in childhood or adolescence; attacks last min to days (hours on avg)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Friedreich’s Ataxia

A

AR due to GAA expansion in GXC gene on chrom 9q, encodes frataxin, a mitochondrial protein

Starts with gait ataxia during puberty
Dysarthria, hyporeflexia, upgoing toes, scoliosis, pes cavus, loss of proprioception
Cardiomyopathy, arrhythmias, DM

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Glutaric Acidemia Type 1

A

AR due to deficiency of glutaryl-coenzyme A dehydrogenase that causes an extrapyramidal syndrome in infancy

-dystonia, dyskinesias, dev delay, hypotonia, opisthotonus
MRI: frontotemporal atrophy with prominent Sylvian fissures (batwing appearance)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

HARP Syndrome

A

Hypobetaliporoteinemia
Acanthocytosis
Retinitis pigmentosa
Pallidal degeneration

Some have PANK2 gene mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Huntington Disease

A

AD, due to expanded CAG repeat in HD gene on chrom 4p, encodes huntingtin
Change in saccadic eye movements, clumsiness and fidgeting, followed by chorea and later bradykinesia and dystonia
Irritability, mood changes and later, apathy

Tx for chorea: tetrabenazine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Meige Syndrome

A 
Mandibular dystonia
Eyelid muscle spasm
Involuntary eyelid closure
Excessive blinking
Occasionally tongue protrusion/tongue spasms and cervical dystonia

Tx: botox

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Alpha Synucleinopathies

A 
think "Palm Synday"
Parkinson's Disease
Alzheimer's (both alpha-synuclein AND tau-opathy)
Lewy Body Dementia
Multiple Systems Atrophy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Hot Cross Bun sign on MRI

A

MSA

due to degeneration of pontocerebellar fibers

17
Q

Shy Drager Syndrome

A

Parkinsonism and dysautonomia (impotence in men, orthostatic hypotension, decreased sweating, difficulties with urination)

Cell loss in putamen, substantia nigra, locus ceruleus, Onuf’s nucleus, and intermediolateral cell column)

18
Q

Neuroacanthocytosis

A

presents ~30 yo
Associated with behavior and cognitive changes
chorea, dystonia, tics, parkinsonism
Orofacial dystonia–patients accidentally bite tongue and lips, dysarthria and interference with eating

AR form-gene chorein
X-linked form=McLeod Syndrome

19
Q

Causes of acanthocytosis

A 
Neuroacanthocytosis
Wolman disease (acid lipase deficiency)
abetalipoproteinemia
vitamin E deficiency
Ataxia-telangiectasia
McLeod syndrome
HARP syndrome
20
Q

Bromocriptine, pergolide, pramipexole, ropinirole, apomorphine

A

Dopamine agonists used to treat PD
Associated with sudden attacks of sleepiness
Pergolide and bromocriptine may cause pulmonary fibrosis, hallucinations, seizures, syncope or erythromelalgia

21
Q

Selegiline, rasagiline

A

MAO-B inhibitors used to treat PD
Selegiline is metabolized into L-methamphetamine and L-amphetamine–>may have +UDS for methamphetamines

MAO breaks down dopamine

22
Q

Amantadine

A

Indirect dopamine agonist

can cause CHF, cardiac arrhythmias, bone marrow toxicity

23
Q

Tolcapone, entacapone

A

COMT inhibitors
COMT breaks down dopamine

Tolcaphone associated with liver toxicity

24
Q

Trihexyphenidyl, benztropine

A

anticholinergics used to treat tremor and rigidity in PD

25
Q

Pelizaeus-Merzbacher

A

Classic phenotype (X-linked recessive): presents in infancy with abnormal eye movements, such as pendular nystagmus or roving eye movements
Head tremor/nodding and later spasticity, ataxia and optic atrophy
MRI with symmetric dysmyelination. A tigroid appearance due to small regions of normal neurons and myelin in midst of abnormal white matter

Classic form: PLP1 mutation on Xq
X-linked spastic paraplegic type 2: PLP1 mutation
Connatal form (absence of myelin): presents earlier and progresses faster: AR or X-linked
26
Q

Periodic Limb Movement Disorder

A

Dx: >5 PLMs per hour of sleep
PLMs: involuntary, stereotyped movements that meet criteria on polysomnography: Movements last 0.5-10 seconds and occur in a cluster of at least 4 movements

Occur in light sleep
Causes of secondary: uremia, DM, spinal cord injury, abnormalities of iron, calcium, potassium, or magnesium
Worsened by antidepressants and caffeine
Tx: pramipexole, pergolide, sinemet, clonazepam, carbamazepine, clonidine, opiates

27
Q

Pathology in Corticobasal Ganglionic Degeneration

A

Astrocytic plaques–immunoreactive for tau
Ballooned neurons
Coiled atrophy, especially of the parietal and frontal lobes and Coiled bodies of tau in oligodendrocytes
Degeneration of the substantia nigra and striatum

28
Q

Chorea gravidarum needs eval for

A

Rheumatic fever
Antiphospholipid antibody syndrome
SLE

Neuro Boards (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions