Movement Disorders

Question 1

Causes of CJD?

Answer 1

An altered form of normal protein causes transformation of normal protein into abnormal prion protein which then accumulates and damages brain cells

Sporadic
Inherited - mutations in the PRNP gene
Iatrogenic
Variant

Question 2

Presentation of sporadic CJD

Answer 2

Median age of death 68yrs
Illness of 4-5 months

Rapid dementia
Visual abnormalities
Ataxia
Spasticity, tremors and rigidity
Behavioural changes
Myoclonus`

Question 3

Investigations for CJD

Answer 3

EEG - spike and wave pattern
MRI - increased signal in basal ganglia
CSF - 14-3-3 analysis

Biopsy will confirm

Question 4

Presentation of Parkinsons Disease

Answer 4

>50yrs
M=F
Tremor
Rigidity
Bradykinesia
Postural instability

Question 5

Treatment of Parkinsons Disease

Answer 5

Levodopa
Dopamine agonists
Monoamine oxidase (MAO) B inhibitors
Anticholinergic agents
COMT inhibition

Question 6

Adverse effects of dopaminergic therapies

Answer 6

Nausea - domperidone
Abdominal cramping
Diarrhoea
Somnolence
Dizziness and headache
Confusion, hallucination, delusions, agitation and psychosis
Orthostatic hypotension

Question 7

Drugs to avoid when treating nausea

Answer 7

Promethazine
Prochlorperazine
Metaclopramide
Typical antipsychotics

Question 8

Management of PD dementia

Answer 8

Exclude causes of delerium

Reduce anticholinergics –> amantadine –> MAO-B inhibitors. –> COMT inhibitors –> dopamine agonist

Cholinesterase inhibitors

Question 9

Lewy body dementia Vs. Parkinsons disease

Answer 9

1 year rule - onset of dementia within 1 year of parkinsonism –> lewy body dementia

Question 10

Features of PSP

Answer 10

Brainstem disease
Accumulation of TAU

Mobility features early
Impaired up-gaze but preserved vestibulo-ocular reflex
Axial rigidity
Swallowing problems

MRI = hummingbird sign

Older age at onset
Survival 5-6yrs

Question 11

Features of MSA

Answer 11

Disease of dysautonomia
Accumulation of SYNUCLEIN

Parkinsonism
Cerebellar and pyramidal signs - ataxia and dysmetria
Autonomic dysfunction - impotence, postural hypotension, urinary incontinence and retention
Sleep disturbance

Age of onset 50yrs
Survival 6yrs

Question 12

Genetics of Huntington disease

Answer 12

Autosomal dominant disorder
Triplet repeat disorder - CAG –> disordered huntingtin protein –> neuronal cell death

Loss of caudate –> loss of GABA –> loss of inhibition of motor function –> chorea

Anticipation especially when inherited from the father

Question 13

Diagnosis of Huntingtons disease

Answer 13

Family history
35-45yrs of age at onset of symptoms
Death 5-15yrs after onset of symptoms

Chorea
Bradykinesia
Dysarthria, dysphagia and respiratory difficulties
Cognitive impairment - early impairments in judgement –> late impairments in memory
Depression
Psychiatric disorders - apathy and withdrawal, depression, disinhibition, irritability, psychosis

Genetic testing

Question 14

Fragile X syndrome genetics

Answer 14

CGG repeat expansion in the FMR1 gene
X linked disorder

–> autism, mental retardation, elongated face, large ears, large testes, stereotypic movements and social anxiety

Question 15

Features of Corticobasal degeneration?

Answer 15

Degeneration of the cerebral cortex and basal ganglia
Accumulation of TAU

Parkinsonism
Alien hand syndrome
Apraxia
Aphasia
Dementia

50-60yrs