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Glut-1 Deficiency
Symptoms, age of onset, CSF findings, treatment, underlying mutation
- Microcephaly, ataxaia, seizures, spasticity.
- Seizures by 4 months
- Low glucose which is why you do a ketogenic diet so the brain uses ketones for energy rather than glucose.
- SLC2A1 mutation
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Kearns-Sayre
Symptoms, inheritance, which of the mitochondrial electron transport chain are most often affected?
- Progressive external ophthalmoplegia, generalised weakness, cardiac conduction abnormalities, retinitis pigmentosa, elevated csf glucose, endocrine disorders.
- COMPLEX 1
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Which organs mediate vibration sense?
Pacinian Corpuscles
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Which organs mediate position and dynamic touch?
Meissners corpuscles.
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Which cells derive from the neural crest and where does the neural crest arise from.
- Neural crest arises from the ectoderm
- Neural crest derivatives are:
- Schwann cells
- Dorsal root ganglion
- Melanocytes
- Adrenal glands
- Enteric nervous system
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Headaches, abdominal pain, basophilic stippling and wrist drop?
What does this toxin do to you?
- Lead poisoning
- Affects porphyrin metabolism by inhibiting gamma-aminolevulinic acid leading to a microcytic anaemia.
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Painful paraesthesias, garlicky breath and thick deposits in his nails?
What does this toxin do to you?
- Arsenic
- Interferes with oxidative metabolism causing dying back of myelinated fibres i.e. painful paraesthesia
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Allopecia, autonomic neuropathy and cranial neuropathies?
What does this toxin do to you?
- Thallium
- Interacts with the Na/K ATPase
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Muscle spasms, opisthotonus and seizures?
- Strychnine - antagonist of glycine and Acetylcholine.
- Found in pesticides, rodenticides and herbal remedies.
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How do benzodiazepines work?
How do barbiturates work
- Benzos - Increased frequency of GABA channel opening.
- Barbiturates - Increased duration of GABA channel opening
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What makes up the basis of the blood brain barrier?
- Tight junctions between cells - The Zona Occludens
- Astrocytic Podocytes also contribute.
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Which nominal 'brain structures' lack a BBB?
- Posterior part of the pituitary
- Pineal gland
- Area postrema (where the CTZ is)
- Vascular organ of lamina terminals (VOLT)
- Subfornical organ
- Median eminence
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If you see Fahrs on a CT what do you need to rule out?
- Hypoparathyroidism
- Pseudohypoparathyroidism
- Hyperparathyroidism
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Cobblestone lissencephaly?
- Neurons found in the meninges - essentially theyve traveled too far during migration.
- Associated with several neuromuscular conditions.
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What are the neuronal migration problems?
- Heterotopia - can be periventricular or band like and cause seizures.
- Schizencephaly - Clefts between ventricles and the subarachnoid space without gliosis.
- Lissencephaly - Few or no gyri and low number of cortical layers.
- Pachygyria - Few, broad and thickened gyri
- Polymicrogyria - Lots of small gyri
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How many layers are there in the cortex?
Which layer are the pyramidal cells in?
- 6
- Pyramidal motor cells in layer 5
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How does gabapentin modulate pain?
Modulates presynaptic alpha-4-delta calcium channels
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Where is the auditory cortex?
Inferior temporal gyrus
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Unilateral autonomic signs in Trigeminal autonomic cephalgias are caused by activation of?
Superior salivatory nucleus
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What is the typical duration of the following trigeminal autonomic cephalgias:
1. Cluster
2. Paroxysmal hemicrania
3. SUNCT
- 1. 15-180mins
- 2. 2-30mins
- 3. 1-600seconds
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Is there a gender dominance of the trigeminal autonomic cephalgias?
- Cluster male preponderance
- Paroxysmal hemicrania female
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Which medications are associated with PRES?
- Tacrolimus
- Cyclosporin
- Avastin and any anti VEGF agent
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Which conditions are associate with PRES
- Hypertension
- Autoimmune conditions
- Pregnancy
- Eclampsia
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Which triptan has the longest half life?
Frovitriptan
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What is the most common site for a CSF leak?
Thoracic cord
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What is Kluver-Bucy syndrome
Hyperorality, Hyperphagia and Hypersexuality
Lesion of the amygdala bilat (or more commonly bilateral medial temporal lobes in HSV enceph)
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What is Mollaret meningitis?
- Recurrent meningitis with HSV-2
- May need oral valcyclovir
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Whats the problem with cycad nuts?
- They come from plant that have cyanobacterium which produce BMAA (beta methylamino L alanine).
- People in many parts of the world either turn these nuts into flour or eat animals which eat these nuts and then get Parkinsonism/ALS complex
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Which genes are associated with familial hemiplegic migraine?
How does the presentation of familial hemiplegic migraine differ from sporadic hemiplegic migraine?
- CACNA1A - Type 1 - assoc with cerebellar atrophy
- ATP1A2 - Type 2
- SCN1A - Type 3
- All autosomal dominant
- Familial presents earlier (age 11-13).
- Sporadic will be in the latter teenage years.
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Where should white matter lesions be to make you consider CADASIL?
What chromosome is cadasil on?
Which gene is affected?
- Anterior temporal poles (90%)
- Corpus callosum
- Extreme capsule
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After the cerebral hemispheres, which region is most often affected in PML?
What does pathology show in PML?
- Caudate head
- Balloned oligodendrocytes with nuclear inclusion and
- Bizzare nuclei
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Which vein is most commonly affect in CVST?
Superior sagital sinus
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Whats the problem with topiramate?
- Weight loss
- Cant mix it with valproate because youll get hepatic encephalopathy
- It could give you calcium phosphate kidney stones
- It could give you angle closure glaucoma!
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Right upper limb weakness, agraphia, acalculia, finger agnosia, right left disorientation...whats the syndrome called and where is the lesion?
- Gerstmann's syndrome
- Dominant inferior parietal lobule - encompassing the angular and supramarginal gyri
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Where does the lesion need to be to cause prosopagnosia?
Non-dominant fusiform gyrus lesion
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Astereognosis?
- Tactile agnosia
- Lesion of the superior parietal lobe
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Exclusion criteria for thrombolysis?
- Systolic>185
- Diastolic>110
- Bleed
- Platelets<100,000
- INR>1.7 or on a DOAC
- hypoglycaemia
- Intracranial aneurysm >10mm
- Brain tumor
- Infective endocarditis
- GI bled within 21 days
- Major surgery within 14 days
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Relative risk reduction of Warfarin in AF?
Relative risk reduction of Aspirin alone in AF?
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Other name for sturge-weber?
Encephalotrigeminal angiomatosis
- Port wine stain is your trigeminal angioma
- Ipsilateral leptomeningeal angioma which looks like a paucity of blood vessels with associated brain atrophy.
- Buphthalmos (eye enlargement and protrusion)
- They can get intractable seizures and need hemispherectomy
- Inheritance is sporadic
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Fabry's disease?
- Acroparaesthesia (lancinating pains in fingers and toes)
- Angiokeratomas (dark red or purple papules found around the groin or umbilicus)
- Cardiac arrythmias and CCF
- Autonmic dysfunction (anhidrosis, impotence, gutdysmotility)
- Accumulation of sphingolipids
- Deficiency of Alpha-galactosidase A
- X-linked recessive
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Mortality in GBS is mainly due to?
- Autonomic dysregulation!
- Its the cardiac arrythmias and cardiac arrest that gets them.
- People generally know to look out for resp dysfunction
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What ind of weakness is classic of border zone infarcts?
Proximal limb weakness - man in a barrel
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Whats the best treatment for symptomatic, large, intracranial artery atherosclerosis?
- Aspirin + Clopi + Statin
- SAMPRIS protocol
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Borderzone infarct of the dominant lobe leads to?
Transcortical aphasia with intact repetition
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When does peak vasospasm occur in Aneursymal SAH?
4-14 days
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How many first degree relatives need to have had an SAH or Aneurysm in order to screen asymptomatics?
2
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Complications of SAH?
- Vasospasm
- Re-bleed
- Seizures
- Hydrocephalus
- Hyponatraemia
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Which conditions are associated with SAH?
- ADPKD
- Moya Moya
- Co-arctation of the aorta
- NF1
- Pompe's
- Fibromuscular dysplasia
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Features of Expressive dysphasia?
(Broca's)
- Non-fluent Staccato speech
- Cannot name or repeat
- Comprehension preserved
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Features of Receptive aphasia?
(Wernicke's)
- Fluent but nonsensical speech
- Cannot name or repeat
- Comprehension badly impaired
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Conduction aphasia?
(Arcuate fasiculus)
- Impaired repetition
- Comprehension intact
- Mild expressive difficulty
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Transcortical aphasia?
- The only one where repetition is preserved.
- Caused by watershed infarcts affecting the TPO junction.
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Where is Broca's and where is Wernicke's?
- Broca's: posterior part of inferior frontal gyrus
- Wernicke's: Posterior part of the superior temporal gyrus.
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Facts about fibromuscular dysplasia?
- It only effects the extracranial vessels
- Predisposes to Carotid artery dissection.
- Looks like a string of beads on angio.
- 65% are bilateral.
- Most common presenting feature is Hypertension because the renal artery is the most commonly involved.
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Most common location ofr hypertensive bleed?
- Putamen
- Thalamus
- Cerebellum
- Ventral part of the pons
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What is a highly sensitive marker for Diffuse axonal injury and which imaging modalities show DAI best?
- CSF B Amyloid
- SWI/GRE sequences show micro-haemorrhages at GWMJ, Corpus callosum and brainstem
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How many half lives of sedative medication need to be allowed before confirmation of brain death?
5 half lives
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What are the differences between critical illness myopathy and neuropathy?
- Reflexes and sensation are preserved in myopathy. Absent in neuropathy.
- NCS shows prolonged CMAP in myopathy. Normal in neuropathy.
- Loss of type 2 myofibres in myopathy.
- Axonal loss in neuropathy.
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Everyone knows methanol makes you go blind....what else does sit do?
- Haemorrhagic necrosis of putamen
- The blindness is optic atrophy.
Methanol is converted to formaldehyde and then formic acid...thats right, the stuff ants use to burn you.
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