Neurology

Question 1

What are the Sodium AED’s? (can’t use in sodium channelopathy)

Answer 1

Phenytoin 
Lamotrigine 
Carbamazepine
Topiramate
Valproate

Question 2

Ataxic telangectasia pathogenesis

Answer 2

Autosomal recessive

ATM gene mutation on chromosome 11

Question 3

Ataxic telangectasia vs Fredreich ataxia age of onset

Answer 3

2-3 yo vs adolescent

Question 4

Ataxic telangectasia clinical features

Answer 4

Gait trunk limb ataxia 
Sinopulmonary infection 
Oculomotor  apraxia and jerking
Radiation sensitivity 
Risk of lymphoma and  leukemia

Question 5

Ataxic telangectasia lab findings

Answer 5

High Afp

Low immunoglobulin

Question 6

Ataxic telangectasia prognosis

Answer 6

Wheelchair bound by 10

Median Survival 25

Question 7

Fredreich ataxia clinical features

Answer 7

Trunk limb ataxia 
Dysarthria
Pes cavus
Absent reflexes
Diabetes 
Cardiomyopathy 
Scoliosis

Question 8

Fredreich ataxia prognosis

Answer 8

Wheelchair bound by 10 -25 years after diagnosis

Most common cause of death is cardiomyopathy

Question 9

Management of tics or tourette

Answer 9

Behavioral therapy
Alpha agonist clonidine or guanfacine
Deep brain stimulation
Treat comorbid adhd and ocd

Question 10

Tourette syndrome

Answer 10

Both vocal and motor tics

More than 12 months

Question 11

Types of cerebral palsy

Answer 11

Spastic 70%
Dyskinetic 
- choreoathetoid
- dystonic
Hypotonic
Mixed

Question 12

Early hand preference

Answer 12

Before 1year

Question 13

Rett syndrome pathogenesis

Answer 13

X linked dominant

Mecp2 gene mutation

Question 14

Rett syndrome clinical features

Answer 14

Autistic features
Developmental regression 1.5 - 3 year old
Then stabilisation
Intellectual disability
Movement disorders
Seizure
Microcephaly

Question 15

Fredreich ataxia pathogenesis

Answer 15

Autosomal recessive
GAA expansion trinucleotide repeat
Cause silencing of Frataxin gene

Question 16

What is dysmetria

Answer 16

Cannot judge distances

Cerebellar sign

Question 17

What are the primitive reflexes and their ages of onset/disappearance

Answer 17

Moro, grasp, rooting, stepping - birth to 4-6 mo
Gallant/trunk incurvation - birth to 4mo
Fencing - birth to 3mo

Parachute - 9mo to never
Babinski - birth to 12-18mo

Question 18

What do primitive reflexes assess

Answer 18

Integrity of brainstem and basal ganglia
Should be symmetrical
Disappearance indicates normal maturation of descending inhibitory cerebral influences

Question 19

What is sterognosis

Answer 19

Recognising an object in hand by sensation

Question 20

What is graphesthesia

Answer 20

Recognising a number written on hand

Question 21

How to test cortical areas of sensation

Answer 21

Stereognosis
Graphesthesia
Two point discrimination

Question 22

What do fibrillations or fasciculations indicate

Answer 22

Denervation

Dysfunction of either anterior horn cell or peripheral nerve

Question 23

Nerve conduction abnormality in demyelinating and axonal neuropathy

Answer 23

Demyelinating - reduced velocity

Axonal - reduced amplitude

Question 24

Ilae recommends treatment if risk of seizure recurrence is above

Answer 24

60%

Question 25

Recurrence risk after first unprovoked seizure

Answer 25

If generalised, normal EEG and exam 25% Add 25% if - focal - either EEG or exam abnormal - add 50% of both abnormal

Question 26

Spasticity vs dystonia

Answer 26

Spasticity is velocity dependent resistance to movement

Question 27

What are the hepatic enzyme inducing AEDs (reduce effectivenes of contraceptive pill)

Answer 27

carbamazepine, oxcarbazepine, perampanel (at doses of 12 mg daily or more), phenobarbitone, phenytoin, primidone and topiramate (at doses of 200 mg daily or more).

Question 28

Risk of major congenital malformation in babies born to mothers taking AED

Answer 28

4 to 6%, which is about twice the risk for babies born to mothers without epilepsy.

Question 29

Which gestation does teratogenicity occur due to exposure to AED

Answer 29

Prior to confirmation of conception

Question 30

What determines neurodevelopmental effects of AED on fetus

Answer 30

Probably depend on fetal drug exposure throughout the pregnancy

Question 31

At what dose of valproate is its risk if teratogenicity similar to other AEDs

Answer 31

600 to 800mg daily

Question 32

First line for symptomatic generalised idiopathic/genetic epilepsy

Answer 32

Valproate

Question 33

How do lamotrigine and valproate interact

Answer 33

Valproate reduces lamotrigine clearance

Question 34

What is the earliest sign of carbamazepine toxicity

Answer 34

Diplopia 30-60minutes after dose

Question 35

Types of Charcot Marie Tooth

Answer 35

Aka HMSN 1 demyelinating 2 axonal

Question 36

Clinical features of Guillain Barre

Answer 36

Can be axonal or demyelinating 10 days post mycoplasma or campylobacter Symmetrical ascending weakness Absent reflexes No spinal tenderness Can have numbness/paresthesia Can have autonomic features Preserved bladder and bowel Csf elevated protein but no pleocytosis

Question 37

Guillain Barre - Miller Fisher variant

Answer 37

Ataxia Ophthalmoplegia Areflexia

Question 38

What is nusinersin and how does it work

Answer 38

Antisense oligonucleotide Clinical phenotype of SMA is closely related to SMN 2 gene Nusinersin alters SMN2 pre-RNA splicing so exon 7 is included - increasing expression of functional SMN protein

Question 39

CIDP clinical features

Answer 39

Both proximal and distal weakness | Relapsing remitting

Question 40

CMT/HMSN clinical features

Answer 40

``` Mostly motor, some sensory and autonomic Some variants affect infants Pes cavus Palpable nerves Peroneal and tibial nerves earliest and most severely affected ```

Question 41

Myasthenia gravis cause

Answer 41

Antibodies block the Ach receptors at the neuromuscular junction - no message received - no action potentials at muscle

Question 42

Pyridostigmine and neostigmine mechanism of action

Answer 42

Anticholinesterase inhibitor - Stops breakdown of Ach receptors by cholinesterase - maximise level and duration of neurotransmitter Ach

Question 43

Anticholinesterase inhibitor uses

Answer 43

Occur naturally in venoms Nerve agents Myasthenia gravis

Question 44

Types of myasthenic syndromes

Answer 44

``` Congenital (gene mutation in neuromuscular jxn) Transient neonatal (mum has myasthenia) Juvenile (autoimmune; late infancy and childhood) ```

Question 45

Treatment of myasthenia

Answer 45

Anticholinesterase agents, IVIG or plasmapheresis, chronic immunosuppressive agents, and thymectomy Avoid exacerbating medications patients with MuSK-positive disease are poorly responsive to anticholinesterase agents and thymectomy

Question 46

Different genetic mutations that differentiate Becker from Duchenne muscular dystrophy

Answer 46

Inframe (produce partially functional dystrophin) vs Frameshift, nonsense or premature translation stops

Question 47

Absence seizure <2yo

Answer 47

Glut 1 deficiency

Question 48

Low glucose in csf without pleocytosis

Answer 48

Glut1 deficiency

Question 49

Cervical plexus

Answer 49

C1-C4) – innervates the diaphragm, shoulders and neck

Question 50

Brachial plexus

Answer 50

 (C6 – T1) – innervates the upper limbs

Question 51

Lumbosacral plexus

Answer 51

L2-S1) – innervates the lower extremities

Question 52

Foot drop

Answer 52

Cant invert- common peroneal palsy | Cant evert -L5 palsy

Question 53

Treatment of Rolandic

Answer 53

Carbamazepine may make it worse but can use SR, increase doses slowly Mostly does not need treatment Resolved by mid teens

Question 54

Rolandic associated with

Answer 54

Inattention | Learning difficulties

Question 55

Epilepsy resolved if

Answer 55

Seizure free for the last 10 years, with 5 being off AED

Question 56

Treatment of glut 1 deficiency

Answer 56

Ketogenic diet