Movement disorders Flashcards
Is a resting tremor necessary to make the diagnosis of Parkinson’s disease?
no
When does dementia begin in someone with PD?
later, usually over a year
Is PD alpha or tau?
alpha
Pathologic hallmark of PD?
lewy bodies (neuronal intracytoplasmic inclusions surrounded by a clear halo)
Pathologic hallmark of MSA?
oligodendroglial inclusions
Genes associated with PD?
-PARK1 (alpha synuclein), AD young onset
-PARK2 (Parkin), AR juvenile onset
-LRRK2 and PARK8, familial PD, AD
How do COMT inhibitors work in PD
inhibit conversion of dopamine to 3-O-methyldopa thus prolonging action, reducing “off” periods
MOA of carbidopa
peripheral dopa-decarboxylase inhibitor; reduces conversion of levodopa into dopamine into peripherhy
MOA of pramipexole and ropinirole
dopamine agonist
MOA of rasagiline and selegiline
MAOB inhibitors
MOA of trihexyphenidyl
anticholingeric
*limited for the treatment of tremor
MOA of amantidine
antiglutamatergic
-increases presynaptic dopamine and inhibits reuptake of dopamine
DBS is effective for which PD symptoms?
tremor and bradykinesia
Is PSP responsive to levodopa
not really
Does PSP have retrocollis or anecollis
retrocollis
Is MSA levodopa responsive
no
Vascular parkinsonism affects what?
mostly lower extremities > upper extremities
*tremor is not a prominent feature
manganese toxicity presents how?
psychiatric sx, parkinsonism (usually without tremor), gait disorder (toe walking)
*think miners or welders
what is a rubral tremor
low frequency, present at rest, posture and action
Other than BB and primidone what can be used for essential tremor?
topiramate, gabepentin, benzos
what is secondary tourettism?
when the symptoms are due to an underlying neurologic cause
Wilson’s disease pathophysiology?
inability to excrete copper
Mutation associated with Wilson’s?
chromosome 13, ATP7B
Wing beating is characteristic for what?
Wilson’s
Lab studies for wilson’s show what?
reduced serum ceruloplasmin and increased urinary excretion of copper
treatment for wilsons?
low copper diet, zinc supplement, D-penicillamine
Huntington’s gene?
trinucleotide repeat CAG, chromosome 4
How do you best treat Sydenham’s chorea?
antidopaminergic therapies
Chorea in pregnancy, what should you be thinking about?
-prior rheumatic fever
-underlying autoimmune disease, SLE
-antiphospholipid antibody syndrome
chorea-acanthocytosis ?
mixed movement disorder, dystonia and chorea
*most prominent feature is orolingual dystonia (tongue protrustion), self mutilating, cognitive decline, dysarthria, PD, seizures, opthalmoplegia
Mutation in chorea acanthocytosis?
VPS13A gene on chromosome 19
what do you see on a blood smear in chorea acanthycytosis?
acanthocytes (spiculated red blood cells)
Dentatorubral pallidolysian atrophy is what?
*Asians
-myoclonus, choroathetosis, epilepsy, dystonia, tremor, PD, cognitive
Gene invovled in dentatorubral pallidolysian atrophy?
AD, trinucleotide repeat CAG on chromosome 12
Lesch Nylan is what?
abnormal purine metabolism –> hyperuricemia, kidney stones, neurpsych sx, abnormal movements
*also have self mutilation
Mutation in Lesch Nyhan?
X linked recessive, mutation in HGPRT
Where is the lesion in unilateral hemiballism?
-contralateral subthalamic nucleus (STN)
-can also happen in contralateral parietal or thalamic lesions
What can cause bilateral ballism?
bilateral BG infarcts
Treatments for tardive dyskinesia?
clonazapam and tetrabenazine
What is dystonia?
sustained contraction of agonist and antagonist muscles
What is segmental dystonia?
if the dystonia spreads to a contiguous body part
What is generalized dystonia?
at least 2 segmental regions with at least one other body part
Gene in primary generalized dystonia?
AD, mutation in torsin A chromosome 9
*ashkenazi jews
How does primary generalized dystonia present?
usually in childhood with action induced limb dystonia then usually spreads
*poor response to levodopa
How do you treat primary generalized dystonia?
anticholinergics, benzos, DBS
Does blepharospasm involve cheek and mouth?
no, but hemifacial spasm does
what is paroxysmal kinesigenic dyskinesias?
-hyperkinetic abnormal movements with intervening normalcy
-precipitated by sudden movement, startle, hyperventilation
What is the difference between paroxysmal kinesigenic dyskinesias and paroxysmal nonkinesigenic dyskinesias?
PNKD are longer and there is sometimes to clear trigger
symptoms of episodic ataxia type I?
-ataxia with facial twitching, can have myokemia or neuromytotonia
-triggered by startle, movement or exercise
*mutation in KCNA1
*anti-convulsants work well
symptoms of episodic ataxia type II?
ataxia with brainstem symptoms, nystagmus, dysarthria.
-No facial twitching
-triggered by alcohol/caffeine
*mutation in CACN1A4
*tx with acetazolamide
symptoms of episodic ataxia type III?
-tinnitus and vertigo
-in between attacks myokemia occurs
*tx with acetazolamide
symptoms of episodic ataxia type IV?
ataxia with ocular motion abnormalities
*triggered with quick head turning
Stiff person syndrome antibodies?
Anti-GAD
Symptoms of stiff person syndrome?
increased tone, lumbar lordosis, spasms, startle response
Friedrich Ataxia gene mutation?
trinucleotide repeat GAA, chromosome 9
*autosomal recessive
Ataxia-telangiectasia symptoms?
-neuropathy, ataxia, extraocular movement abnormalities (cant move eyes without head thrusting)
-recurrent sinopulmonary infections
How do you treat cerebrotendinous xanthomatosis?
chenodeoxycholic acid
Which neurodegeneration with brain iron accumulation syndrome has ‘eye of the tiger” findings on MRI?
PKAN
Neurotransmitter in familial hyperekplexia?
Glycine
Medication that improves cardiomyopathy in Friedreich ataxia?
idebenone, coenzyme 10 analogue
Halo sign in cerebral peduncles is seen in what disorder?
BPAN
What is a difference between stereotypies and complex tic?
sterotypies dont have a urge and relief with the movement
Paroxysmal exertional dyskinesia
-dyskinesas after prolonged exercise
-last about 5-30 mins but can be up to 2 hours
-GLUT-1 gene mutation
Paroxysmal exertional dyskinesia CSF?
hypoglycorrhachia
Treatment for PED (paroxysmal exertional dyskinesia)
keto diet
Mutation associated with PNKD?
MR-1
Treatment for PKD?
anti-convulsants
CBZ
Paraneoplastic antibodies for stiff person syndrome?
anti- amphiphysin
GAD does what?
synthesizes GABA (inhibitory)
What part of the cerebellum does alcohol mostly affect?
midline structures (vermis)
What GI disease can cause isolated cerebellar ataxia?
celiacs
*even without GI symptoms
Mercury toxicity symptoms?
cerebellar toxicity, visual field deficits, parasthesias
Chemo agents that lead to cerebellar toxicity?
5-flurouracil
cytarabine
Which disorder ha high alpha fetoprotein?
ataxia telangectesia
Mutation in ATM?
ATM chromosome 11
-impaired DNA repair
Which SCA has tongue and facial atrophy/fascicuations?
SCA-3
Machado Joseph
Inheritance of Fragile X Tremor Ataxia Syndrome?
X linked
CGG repeat FMR1
Sx of FXTAS?
tremor, ataxia, parkinsonian signs, dysautonomia, cognitive decline
*family history of mental retardation
MRI of FXTAS?
hyperintensties in cerebellum and inferior cerebellar peduncles
Inheritance of cerebrotendinous xanthomatosis?
AR
def in enzyme 27 sterol hydroxylase on chromosome 22
-deposition of cholesterol and cholestanol in variety of tissues
Sx of cerebrotendinuous xanthomatosis?
neuropsych, ataxia, parkinsonism, neuropathy, tendon xanthomas (esp achilles tendon), diarrhea, cataracts
Lab abnormality in cerebrotendinous xanthomatosis?
elevated cholestanol
Treatment of cerebrotendinous xanthomatosis?
chendodeoxycholic acid
Orthostatic tremor
-affects trunk and thighs
-unsteadiness or shakiness on standing, improvement when start walking
EMG of orthostatic tremor?
high frequency- 14-16 Hz
Imaging finding for Fahr’s disease?
bilateral calcifcation of BG and cerebellum (striopallidodentate calcinosis)
How do NBIA disorders present?
various movement disorders: parkinsonism, dystonia, choreoathetosis, might have developmental delay
Mutation in dopa responsive dystonia?
CTP cyclohydrolase I
AD
