Which 2 DMT for MS can cause development of self-neutralizing antibodies
1. Natalizumab
2. Interferons (1b > 1a)
Whare the most common stiff person syndrome antibodies (name at least 2)
1. GAD65, amphiphysin, glycine receptor, DPPX
Describe how myopathic and chronic neurogenic changes on EMG affect the following:
1. MUAP duration
2. MUAP amplitude
3. Recruitment
Myopathic: early/increased recruitment, low/small amplitude MUAP, short duration MUAP
Neuropathic: long duration MUAP, large amplitude MUAP, decreased recruitment
Which artery do most arteries to the thalamus arise from? Also, describe the artery that arises from a different artery
2. Tuberothalamic (Polar) - Arises from PCOM
Most common cavernous malformation genetic mutation
1. KRIT1 (CCM1)
What is the mechanism of action of dalfampradine and 3,4 DAP and what conditions are they used for?
1. Potassium channel blocker (notably dalfampradine helps with demyelinated axons in particular)
2. MS & LEMS
What condition presents like lower motor neuron predominant motor neuron disease, but EMG reveals evidence of conduction blocks and what is its characteristic antibody
Multifocal motor neuropathy - Anti-GM1
Describes the total tau- p-tau, and beta 42 findings in CSF for Alzheimer's patient (elevated, decreased, normal)
elevated total tau, elevated p-tau, and decreased B 42
Differentiate the following:
1. Capgras
2. Cotard
3. Fregoli
Capgras: Believing a familiar person has been replaced by an imposter
Cotard: Denies existence of own body, believing it (or parts) is/are dead
Fregoli: Thinking different people as being familiar people in disguise
What gene mutation relates theses 3 syndromes:
1. Hemiplegic migraines
2. Genetic Epilepsy with Febrile Seizures + (GEFS)
3. Dravet Syndrome
SCN1A
Describe the MOA of the following medications used commonly in Parkinson's:
1. Bromocriptine
2. Entacapone
3. Selegiline
4. Pimavanserin
5. Amantadine
Bromocriptine: Dopamine agonist
Entacapaone: COMT inhibitor
Selegiline: MAO-B inhibitor
Pimavanserin: 5HT2A receptor inverse agonist
Amantadine: partial dopamine agonist and partial NMDA antagonist
Genes associated with dermatomyositis (name at least 2)
Anti-TIF-1 gamma
Anti-Mi-2
Anti-MDA-5
Which HLA gene is associated with elevated SJS risk with carbamazepine
HLA-B*1502
List the parts of the carotid artery starting proximal to distal
Cervical (C1) → Petrous (C2) → lacerum (C3), cavernous (C4), clinoidal (C5), ophthalmic (C6), communicating (C7)
Let's talk about CMT: Describe the following:
1. Name the most common mutation
2. Name recessive gene
3. Name the X-linked Gene
1. PMP22 duplication CMT1A
2. CMT4 (Autosomal recessive)
3. CMT1X (x-linked dominant)
Bonus: Which CMT mutation is associated with axonal neuropathy and not demyelinating?
Describe the reversal agents for the following:
1. Dabigatran
2. Xa inhibitors
3. Heparin
4. Warfarin
Dabigatran → Idarucizumab
Xa inhibitors → andexanet alfa
Heparin → protamine sulfate
Warfarin → FFP
Name the mechanism of the action of the following DMT (at least 4 out of 6)
1. Natalizumab
2. Siponimod
3. Ocrelizumab
4. Teriflunomide
5. Mitoxantrone
6. Alemtuzumab
Natalizumab: alpha 4 integrin inhibitor - inhibits ability of leukocytes to cross BBB
Siponimod: S1P receptor modulator - inhibits lymphocyte trafficking to to keep in lymph nodes
Ocrelizumab: CD20 inhibitor
Teriflunomide: inhibits pyrimidine synthesis
Mitoxantrone: type-II topoisomerase inhibitor
Alemtuzumab: CD52 inhibitor
Describe what structures arise from the following embryological structures:
1. Telencephalon
2. Diencephalon
3. Mesencephalon
4. Metencephalon
5. Myencephalon
Telencephalon → Cortex
Diencephalon → Thalamic structures
Mesencephalon → midbrain
Metencephalon → pons/cerebellum
Myelencephalon → medulla
Describes which sensation each receptor feels:
1. Meissner's Corpuscles
2. Merkel cells
3. Pacinian corpuscles/ruffini endings
4. free nerve endings
Meissner's Corpuscles: Light, moving touch
Merkel Cells: sustained pressure and texture discrimination
Pacinian corpuscles/Ruffini endings: vibration
Free nerve endings: Pain
Name the disorders associated with the following gene repeats (extra credit for the gene itself):
1. GAA
2. CGG
3. CAG
4. CTG
1. GAA: Friedrich ataxia - FXN
2. CGG: Fragile X - FMR1
3. Huntington's - HTT
4. CTG: myotonic dystrophy - DMPK
Bonus: What 2 other conditions are associated with CAG repeats?
Describes the MOA of the following anti-seizure medications:
1. Ezogabine
2. Vigabatrin
3. Parampanel
4. Cenobamate
Ezogabine: potassium channel enhancer
Vigabatrin: GABA transaminase inhibitor
Parampanel: AMPA antagonist
Cenobamate: GABA agonist, Na antagonist
Describes generally the syndrome and most common tumor locations:
1. Anti-Hu
2. Anti-Yo
3. Anti-Ri
4. Anti-NMDA
5. Anti-Ma2
1. Anti-Hu: Sensory and/or cerebellar degeneration - Small cell
2. Anti-yo: Cerebellar degeneration - Gynecologic or breast
3. Anti-Ri: opsoclonus/myoclonus - Breast cancer (neuroblastoma in kids)
4. Anti-NMDA: temporal lobe encephalitis - ovarian teratoma
5. Anti-Ma2: medial temporal lobe/brainstem encephalitis - testicular cancer
Frequency of repetitive stimulation on NCS to test for Lambert Eaton, Botulism, and Myasthenia Gravis
1: Myasthenia gravis: 2-3 Hz --> decrement
2. Lambert Eaton and botulism: 20-50 Hz --> incremental response
Differentiate Balint, Anton, and Charles-Bonnet syndrome
1. Balint syndrome
2. Anton Syndrome
3. Charles-Bonnet syndrome
Balint: simultagnosia, optic ataxia, ocular apraxia -- bilateral parieto-occipital lesions
Anton: Visual anosognosia - lesions to bilateral occipital lobes -- Pupil response INTACT
Charles-Bonnet: Vivid, complex hallucinations -- vision loss from other etiology (glaucoma, macular degeneration)
Name the chromosomal mutation for each disorder:
1. Angelman
2. Prader-Willi
3. NF1
4. NF2
5. Rett syndrome
Angelman: maternal absence of chromosome 15
Prader-Willi: paternal absence of chromosome 15
NF1: Neurofibromin (NF1) chromosome 17
NF2: Merlin (NF2) chromosome 22
Rett syndrome: MECP2 chromosome X