Neurology

Question 1

Rank the gene mutations responsible for early onset (familial) Alzheimer’s Disease

Answer 1

1. PSEN 1 (presenilin 1): 50%
2. PSEN 2: 10-15%
3. APP: 10-15%

Question 2

What mutations are associated with Parkinson’s disease

Answer 2

LRKN
LRRK2
SNCA
PARK7, PINK1, PRKN

Question 3

What’s included in brainstem death testing?

Answer 3

Pupillary light response - CN II and III
Corneal reflex, response to supraorbital pressure - CN V and VII
Vestibulo-ocular reflex - CN III and VIII
Gag reflex - CN IX and X
Cough reflex - CN X
Absence of respiratory effort.

Question 4

What is CADASIL?

Answer 4

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with migraine, recurrent lacunar strokes and dementia

Question 5

Give differential diagnoses of autonomic neuropathy

Answer 5

Diabetes
Chronic renal failure
AIDS
Primary amyloidosis, and
Porphyria

Question 6

What is vestibular neuronitis?

Answer 6

Vestibular neuronitis is frequently associated with an antecedent upper respiratory tract infection and presents as abrupt onset vertigo, which is severe associated with nausea and vomiting lasting several days. There may be auditory eighth nerve abnormalities, and sensorineural deafness.

Question 7

Give examples of paraneoplastic neurological syndromes

Answer 7

Limbic encephalitis
Cerebellar degeneration
Opsoclonus-myoclonus
Sensory neuronopathy
Lambert-Eaton myasthenic syndrome
Myasthenia gravis
Dermatomyositis, and
Polymyositis.

Question 8

Give differential diagnoses of acute/subacute encephalopathy

Answer 8

Neurodegenerative (for example sporadic Creutzfeldt-Jakob disease [CJD])
Endocrine (hypothyroidism)
Toxicological (lead, arsenic poisoning)
Nutritional (vitamin B1 deficiency)
Infective (HSV, HIV), and
Autoimmune causes.

Question 9

List differential diagnoses of non-convulsive status

Answer 9

toxic or metabolic encephalopathies
transient cerebral ischaemia
migraine
infection, or
psychiatric causes.

Question 10

Diffuse Lewy body disease typically presents with:

Answer 10

Dementia
Parkinsonism
Visual hallucinations
Intermittent alteration of attention, and
Sensitivity to neuroleptics

Question 11

What is the Miller-Fisher variant of Guillain-Barré syndrome

Answer 11

ophthalmoplegia, areflexia and ataxia

Question 12

What is Foster Kennedy syndrome?

Answer 12

True Foster Kennedy syndrome is the combination of papilledema in one eye and pallor in the other eye due to a large mass lesion causing compressive optic neuropathy and increasing intracranial pressure. True Foster Kennedy syndrome is very rare, and is typically caused by an olfactory groove meningioma