What is Eaton-Lambert Syndrome?
Paraneoplastic syndrome causing muscle weakness due to autoantibodies against the neuromuscular junction voltage-gated calcium channels. Typically involves proximal muscles.
What is NMDA encephalitis
The most common autoimmune encephalitis. Typically presenting with prodromal fever and headache then behavioural changes, insomnia, memory deficits, seziures, decreased consciousness, dyskinesia, autonomic instability and language dysfunction. Associated with teratomas.
What is Cerebellopontine syndrome?
Due to tumours causing obstruction at the cerebellopontine angle. Causes a palsy of:
CN VIII
CN V
CN VII
What is carried in the posterior columns? Where are they located?
Sensory pathways carrying light touch and proprioception
What does the lateral spinothalamic tract carry and where is it located?
It carries pain and temperature
What does pyramidal weakness refer to?
Upper motor neuron lesion
- Spasticity
- Weakness
- Hyperreflexia
- Up going babinski
What are the clinical features of myotonic dystrophy?
Distal weakness - intrsinic muscles of the hands and foot drop classically (type 2 can have more proximal weakness)
Facial muscle weakness
Weakness of sternocleidomastoids
Myotonia - abnormally slow or delayed muscle relaxation
Other features - intellectual disability, cataracts, gonadal atrophy, insulin resistance etc
What is the inherritance pattern of myotonic dystrophy?
2 forms
Type 1 - CTG trinucleotide repeat in the DMPK gene
Type 2 - CCTG nucleotide repeat in the ZNF9 gene
Both show anticipation and can have somatic mosacism
What are the clinical features of duchenne and becker muscular dystrophy?
Presentation in childhood
Proximal then distal weakness
Lower then upper limb
pseudohypertrophy of the calves
Raised CK
Dilated cardiomyopathy
What is the pathophysiology of duchenne and becker muscular dystrophy?
Due to mutations in the dystrophin gene
X-linked
In the abscence of dystrophin the glycoprotein complex is digested by proteases and there is muscle fibre degeneration.
What are the strongest risk factors for recurrence in TIA/minor stroke?
Multiple infarcts on imaging
Large artery atherosclerosis
ABCD2 score 6-7
What antihypertensives should be avoiding in stroke?
Beta blockers - weak evidence for increased stroke
Calcium channel blockers should be used instead
What is the target BP in intracranial haemorrhage?
<140
What are the most common stroke mimics?
- Seizure
- Sepsis
- Toxic/metabolic
- Space occupying lesion
What is the cut off treating symptomatic carotid stenosis? What imaging should be used
Stenosis 70-99%
Gold standard of imaging is CT arch-cow
Which patients should have HLA typing prior to starting antiepileptics? Which antiepileptics are implicated?
Han chinese, thai
HLA-B 1502
Carbemazepine and phenytoin - severe skin reactions
Which anti-epileptic should be used for absence seizures?
Ethosuxamide
All others have the risk of exacerbating
What is the first line anti-epileptic for focal seizures?
Carbemazapine
Other options are valproate, lamotragine and keppra
What is the first line anti-epileptic for generalised seizures?
Valproate
If female of childbearing age - lamotragine or keppra
What is the definition of drug resistant epilepsy?
Failure of adequate trials of 2 or more anti-epileptics to achieve seizure freedom
What is the risk of epilepsy in family members of patients?
Siblings 3%
Children 5-8%
There is less risk with focal in comparison to genralised
What foetal abnormalities are seen with topiramate?
Cleft lip and palate
Low birth weight
What is an important drug interaction with lamotragine?
OCP lowers the levels of lamotragine as estrogen increases clearence
Levels also need to be monitoring and doses changed in preganancy for the same reason
What is pompe disease?
Alpha glucosidase or acid maltase deficiency. It is a type 3 glycogenosis disease. Autosomal recessive
Usually an infantile presentation with severe muscle weakness including respiratory and cardiac. Can present in adulthood usually with respiratory muscle weakness
Management is with enzyme replacement
What is McArdle disease?
Mutation in PYGM gene leading to a myophosphorylase deficiency.
It causes recurrent myoglobinuria, bought on by high intensity exercise. Other symptoms are muscle pain and stiffness.
Managment is conservative
What is the most common cause of recurrent myoglobinuria?
Carnitine palmitoyltransferase 2 deficiency (CPT2)
It is a lipid storage myopathy
What is the clinical picture of CPT2 deficiency?
Recurrent myoglobinuria and muscle pain with prolonged exercise, fasting and infection
Muscle strength normal between attacks
Usually presents in teens or early adulthood
What is the treatment for myasthenia gravis?
- Supportive
- Pyridostigmine
- Early thyroidectomy (thymoma and without)
- IVIg - esp for crisis
- Steroids - may initially flare
- Immunosuppresion eg AZA, mycophenolate
- Plasma exchange
- Rituximab
What antibodies are found in myasthenia gravis?
Anti-ACh receptor in approx 80%
Anti-MuSK
What is L’hermittes sign?
Shooting pains down the back of the legs when bending the neck
Seen in MS
What is Uhthoffs symptom?
Unilateral visual blurring when body temperature is increased eg hot showers, fevers
What are the areas where MRI lesions can be found in MS which fulfill the diagnostic criteria?
Periventricular
Juxtacortical
Cortical
Infratentorial
Spinal cord
What antibody is seen in NMO?
AQP4 antibody
Spectrum disorder - MOG antibody
In clinically isolated syndrome what features are the highest risk for progression to MS?
>9 T2 MRI brain lesions
CSF oligoclonal bands present
Vitamin D <median></median>
What are the treatment options for MS?
Lower efficacy (30%):
- Interferon B
- Glatiramer
- Teriflunomide
Moderate efficacy(50%):
- Fingolimod
- Dimethyl fumarate
- Cladrabine
Potent efficacy (>70%):
- Natalizumab
- Alemtuzumab
- Ocrelizumab
What MS treatment can be used in preganancy?
Glatiramer
Dimethyl fumarte
What HLA subtype is associated with MS?
HLA DRB1 * 1501
What disease modifying medication can be used in primary progressive MS?
Ocrelizumab - anti-CD20
What is area postrema syndrome?
Seen classically in NMO
Gives nausea, hiccups and vomiting
What is safinamide?
It is a combination of MAOB inhibitor and glutamate release inhibitor
Used for parkinson disease
Reduces dyskinesias
What is the pathophysiology of multiple systems atrophy?
Alpha synculein deposition in glial cells in the nigrostriatal and olivopontinecerebellar structures
What is this signs and what disease is it seen in?
Hot cross bun sign
Seen in advanced cerebellar form of multiple systems atrophy
What is the pathophysiology of progressive supranuclear palsy? What is the MRI finding?
Tauopathy with perinuclear glial inclusions
Hummingbird sign with midbrain atrophy
What is the pathophysiology of Huntigtons disease?
Loss of GABAergic neurons in the striatum
Caudate and putanum atrophy
What is tetrabenazine?
It depletes dopamine in the CNS
Used for choriform movements, hemiballismus, tardative dyskinesia
Lesions in what area of the brain cause hemiballismus?
Contralateral subthalamic nucleus
What antibodies are often seen in treatment resistant CIDP?
Anti-neurofascin
Anti-CASPR
Anti-contactin 1
** anti-neurofascin tend to have a predominant tremor
What are the clinical features of Charcot Marie Tooth?
Distal peripeheral neuropathy
Pes cavus
Inverse champagne bottle ankles
Loss of deep tendon reflexes
Hammer toes
What is gerstmann syndrome?
Damage to the dominant parietal lobe (MCA territory)
- Agraphia
- Acalculia
- R-L confusion
- Finger agnosia
- Ideomotor apraxia
What symptoms are features of non-dominent parietal lobe infarcts?
Hemisensory neglect
Dressing apraxia
Constructional apraxia
In which strokes are aphasia a component?
Dominent hemisphere MCA strokes
What changes on MRI indicate a stroke that can be thrombolysed?
Changes on DWI but none on FLAIR
What is carried in the dorsal column (medial lemniscal system)? Where does it decussate?
Carries proprioception and vibration
Decussates at the lower medulla forming the cuneate and gracile nuclei
What is carried in the anterolateral pathway? Where does it decussate?
Pain and temperature
Decussates at the level of entry
Which component of the corticospinal tract decussates at the pyramides?
The lateral tract. The ventral tract decussates at the level of exit
What is Wallenberg Syndrome?
Also known as lateral medullary syndrome
Due to vertebral artery infarct
Ispilateral facial sensory loss
Contralateral pain and temperature hemisensory loss
Cerebellar/vestibular signs
Horner syndrome
What is Foster Kennedy Syndrome?
Due to an inferior frontal lobe tumour
Optic atrophy in 1 eye and papilloedema in the other
What nerve roots comprise of the radial nerve?
C5-8
What is the motor, sensory and reflexes controlled by the radial nerve?
Motor - posterior (triceps, brachioradialis, hand extensors)
Sensory - posterior, dorsal aspect last 3 fingers
Reflex - triceps
What is the nerve roots which comprise of the median nerve?
C6-T1
What does the median nerve innovate?
Muscle - anterior arm except flexor carpi ulnaris and medial part of flexor digitorum profundus, LOAF muscles
Sensory - lateral part of palm and palmar side of the lateral 3 and a half fingers
Which nerve roots comprise of the ulnar nerve?
C8-T1
What does the ulnar nerve innovate?
Motor - small muscles of the hand expect LOAF, wrist flexion (flexor carpi ulnaris) and medial finger flexion (flexor digitorum profundus)
Sensory - medial 2 and a half fingers and corresponding palm
What are the upper limb reflexes and what is their innovation?
Biceps - C5
Brachioradialis - C6
Triceps- C7
What are the lower imb reflexes and what are their nerve roots?
Patellar - L4
Achilles - S1
What are the nerve roots of the tibial nerve?
L4-S3
What are the nerve roots of the common peroneal nerve?
L4-S2
What nerve roots comprise the femoral nerve?
L2-4
What does the femoral nerve innovate?
Motor - anterior thigh
Sensory - anteromedial thigh and medial lower leg and foot
Reflex - patella
What is Wernickes aphasia?
Sensory/receptive aphasia
Due to disease of temporal lobe
Fluent speech but without meaning, ‘paragrammatic’
Unable to understand and unable to express