Movement Disorders

Question 1

Tics

Answer 1

Non rhythmic semi suppressable stereotyped movements

Ie. Tourette’s syndrome

Question 2

Wilsons Disease

Answer 2

Path: defect in copper transport protein (AR) leads to deposition of copper in organs. Causes cavitation in basal ganglia. 
Clinical:
Asterixis
Basal ganglia: myoclonus, bradykinesia, tremor, dystonia
Ceruloplasmin decreased
Cirrhosis
Corneal copper ring
Dementia 

Tx: copper chelation, zinc to reduce absorption

Question 3

Sydenhams Chorea

Answer 3

Path: arises after infection with GABHS. Ab directed to basal ganglia
Clinical: young age, chorea, emotional lability
Jones major criteria: carditis, chorea, polyarthritis, erythema marginatum, subcutaneous nodules
Tx: long term penicillin

Question 4

Huntingtons Disease

Answer 4

Path: AD CAG Chromosome 4 repeat expansion leads to degeneration of caudate
Clinical:
Young onset (40s)
chorea (early), Parkinsonism (later)
mood changes: depression, irritability, apathy, anxiety, impulsiveness
Later: dementia
IX: genetic testing, rule out other causes like HIV, sydenhams, lupus, hyperthyroid
Tx: supportive

Question 5

Parkinson’s Disease

Answer 5

Path: 90% sporadic, 5% genetic, degeneration in basal ganglia substantial Nigra dopaminergic neurons
Epi: prevalence increases with age, risk factors include male, family history, head injuries
Clinical features:
Tremor
Rigidity
Akinesia/bradykinesia
Postural instability
Also see: micrographia, soft voice, decreased facial expression, freezing, shuffling, constipation, sleep disturbance
Natural history: starts unilateral, spreads to bilateral
Tx: l-dopa plus carbidopa, dopamine agonists, anticholinergics, MAOB inhibitors, COMT inhibitors, deep brain stimulation

Question 6

Progressive supra nuclear palsy

Answer 6

A wtype of Parkinsonian disorder caused by tau protein

Clinical features: limited vertical gaze, axial rigidity, dysarthria, dysphagia

Question 7

Multiple system atrophy

Answer 7

A type of Parkinsonian disorder caused by synuclein protein

Clinical: cerebellar or PD features, autonomic dysfunction

Question 8

Drug induced Parkinson’s

Answer 8

Caused by:
Typical antipsychotics
 GI motility drugs
Calcium channel blockers
Anti epileptics

Question 9

Dystonia

Answer 9

Abnormal sustained muscle contractions and postures

Ddx: huntingtons, Wilton’s, primary

Question 10

Clinical manifestations of cerebellar dysfunction?

Answer 10

1. Nystagmus: rapid, involuntary to affected side
2. Saccadic pusuit- overshoot +correct
3. Dysmetria- can’t do accurate movemnts
4. Tremor- intention, titubation
5. Disdiadocokinesis- can’t do RAM
6. Dysynergia- movement broken down
7. Dysarthria- scanning- words broken up, varying force
8. Hypotonia
9. Rebound (can’t control)

Question 11

Spinocerebellar ataxia

Answer 11

AD (with anticipation)

Clinically: ataxia, chorea

Question 12

DRPLA

Answer 12

Dentato-rubral pallidoluysian atrophy
AD +anticipation (chromosome 12)
Epi: Young adult,
Clinical: cerebellar ataxia, chorea, athetosis, myoclonus
Ix: MRI hows atrophic cerebellum and brainstem, increased cerebral white matter

Question 13

Friedrich’s Ataxia

Answer 13

AR chromosome 9 GAA repeats
Most common
Clinical: onset

Question 14

Ataxia Telangectasia

Answer 14

AR chr. 11
Clinical:
- progressive ataxia, 
-occulocutaneous telangectasia
-increased risk of malignancy
Ix: elevated AFP, LFT, decreased IgG, lymphopenia

Question 15

Ataxia with vitamin E deficiency

Answer 15

AR TTPA gene defect
Clinical: progressive ataxia, no reflexes, (+) babinski
Tx: high dose oral vit. E

Question 16

ARSACS

Answer 16

AR defect Chr. 13 SACS gene
Epi: 1-14 y.o
Clinical: Spastic ataxia, axonal & demyelinating neuropathy
MRI: Cerebellar atrophy

Question 17

Fragile X ataxia tremor (FXTAS)

Answer 17

X-linked FMR1 defect, CGG expansion
Epi: presents later in life
Clinical: kinetic tremor, parkinsonism, autonomic dysfunction, cognitive decline, POF
Soft velvety sin, broad forehead,
MRI: middle cerebellar peduncle hyperintensities*

Question 18

Ataxia with Anti-GAD antibodies

Answer 18

Clinical presentation:

• cerebellar ataxia
• nystagmus
• progressive muscle stiffness

Ix: GAD ab
Tx: IVIG

Question 19

Celiac/gluten ataxia

Answer 19

Epi: mean age 53, associated with other autoimmune disorders
Clinical:
-neuropathy
-autonomic insufficiency
-small bowel enteropathy

Ix: IgG testing, MRI shows cerebellar atrophy
Tx: Gluten free diet, IVIG

Question 20

Cerebellitis

Answer 20

Clinical: fever, headache, acute/subacute cerebellar syndrome
Ix: viral serology, antiGQ1b/QDIb
CSF
MRI: asymmetrical diffuse white matter lesions
Bugs: MANY!!!
Viral: ie. Varicella, measles, HSV, adenovirus, whooping coigh, mumps
Baterial: legionella, salmonella, lyme disease

Question 21

Paraneoplastic cerebellitis

Answer 21

Common causes: SCLC, breast cancer, ovarian cancer, Hodgkins lymphoma
Ix: Anti-Yo ab

Question 22

Toxic Cerebellitis

Answer 22

Most commonly due to EtOH (affects vermis)