General Flashcards
Ramsay Hunt Syndrome
- caused by reactivation of VZV from the geniculate ganglion
- characterized by severe ear pain, ipsilateral facial nerve palsy, and herpetic rash of the external auditory meatus
Parkinson’s disease
- degeneration of dopaminergic neurons in substantia nigra pars compacta
- Lewy bodies: neuronal intracytoplasmic inclusions surrounded by halo
- alpha-synucleiopathy
Targets for DBS
- subthalamic nucleus
- globus pallidus interna
- ventral intermediate nucleus is especially useful for tremor
PSP
- tau-opathy
- gait & imbalance are prominent features; falling occurs 1.5 years after symptoms onset (unlike parkinson’s, when it occurs years after onset)
- vertical gaze abnormalities (restricted upward gaze making going down stairs difficult); can be overcome with oculocephalic maneuver
- square wave jerk and impaired optokinetic nystagmus
- MRI with hummingbird sign (atrophy of midbrain)
- PD features are less asymmetric and not levodopa responsive
- retrocollis: involuntary neck extension is present (vs antecollis in MSA)
- no autonomic features/ataxia (unlike MSA)
MSA
- alpha synnucleinopathy
- autonomic dysfunction: orthostatic hypotension w/o compensatory increase in HR; urinary incontinence, and impotence
- laryngeal dystonia –> potentially fatal
- 3 subtypes: signif autonomic dysfunction, signif parkinsonism, and signif cerebellar ataxia
- MRI with hyperintense rim around putamen & “hot cross bun sign” in pons
- poor response to levodopa
- antecollis (involuntary neck flexion)
Corticobasal Syndrome
- PD plus syndrome
- focal limb rigidity and/or dystonia, cortical myoclonus, and cortical sensory loss (asterognosis, agraphesthesia, and loss of two-point discrimination)
- other fx: frontal cognitive dysfunction, apraxia, alien limb
Secondary causes of Parkinson’s
- post-encephalitis (WNV, influenza)
- manganese toxicity, CO toxicity
- vascular (affects LE > UE); lacunes in BG
- drug-induced (typical antipsychotics)
- NPH and other hydrocephalus
Rubral tremor
- aka Holmes tremor
- low-frequency tremor present at rest, with posture, and with action
- lesions in dentate nucleus and superior cerebellar peduncle
- often seen in MS
Essential tremor treatments
- propranolol (Beta blocker)
- primidone (anticonvulsant which is converted into phenobarb and PEMA)
- 2nd line: atenolol, topiramate, gabapentin, benzo (clonazepam)
Tourette’s Syndrome
- at least one motor and one phonic tic at some time during illness (though not necessarily at the same time) before age 18
- comorbidities: OCD, ADHD, anxiety, depression
- dopaminergic hyperstimulation of ventral striatum + limbic system
- tx: haloperidol, pimozide, clonidine, habit reversal
Wilson’s Disease
- autosomal recessive dx of copper metabolism
- mutation in gene encoding copper transporting P-type ATPase (ATP7B) on chromosome 13 –> inability to excrete copper from liver into bile –> copper accumulation
- neurologic (PD, dystonia, tremor, ataxia), hepatic, and psychiatric features
- decreased serum ceroloplasmin and increased urinary excretion of copper
- MRI with T2 hyperintensities in caudate and putamen with sparing of red nucleus –> double panda sign
- tx: d-penicillamine, zinc supplementation, low copper diet
Lance-adams syndrome
- results from hypoxic-ischemic injury “cortical” myoclonus
- action myoclonus; gait may be affected with leg involvement
- may not be evident until a few months after injury
- Tx: clonazepam, piracetam, LEV, VPA
Huntington’s
- autosomal dominant, trinucleotide expansion of CAG on chromosome 4
- chorea, gait instability, dystonia, neuropsych
- motor impersistence (inability to maintain tongue protrusion)
- impaired saccades and pursuits, insuppressible head movements during eye movements
- MRI: caudate and putamen atrophy
- no cure; symptomatic tx with antidopaminergic (atypical antipsychotics and tetrabenazine)
Neuro-acanthocytosis
- mixed movement dx with chorea and dystonia
- acanthocytes (spiculated RBC) present in blood smear
- chorea-ancanthocytosis, Mcleod’s syndrome, abetalipoprotein are examples
Chorea-acanthocytosis
- orolingual dystonia (tongue-protrusion dystonia particularly while eating), self mutilating behavior, cognitive decline with dementia, dysarthria, opthalmoplegia, PD, seizures, and behavioral problems
- chorea and athetosis (slow form of chorea) also occur
- autosommal recessive; VPS13A gene Chr 9 (chorein protein)
Lesch-Nyhan
x-linked recessive from mutation in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) –> abnormal purine metabolism –> hyperuricemia
- self mutilation
- nephrolithiasis, neuropsych sx, chorea, athetosis, and rigidity occur
Hemiballism
- lesions in contralateral STN
- also occur with contralateral parietal or thalamic lesions
- often responds to antidopaminergic therapy
Tardive Dyskinesia
- more common with typical antipsychotics (haloperidol, fluphenazine b/c of > D2 antagonism)
- can also occur with Reglan (metoclopramide)
- also associated atypical antipsychotics ie risperidone (clozapine and quetiapine least likely to cause it)
- oro-bucco-lingual movements, akathisia (inner restlessness), dystonia (usu neck), tremor, parkinsonism
- tx: clonazepam and tetrabenazine (dopamine-depleting agent)
Primary generalized dystonia
- autosomal dominant
- mutation in torsin A gene, Chr 9 (DYT1)
- generally starts in one limb, then spreads to trunk and other limbs
- poor response to levodopa; tx = anticholinergics, benzodiapines, and DBS of GpInterna
Segawa’s Syndrome (Dopa-responsive dystonia)
- more common in females
- diurnal variation (worse in afternoon and evening)
- mild parkinsonism present on exam
- typically presents in childhood
- response to low-dose levodopa
- MC form: autosomal dominant mutation in GCH1 on CHr 4 (involved in dopamine synthesis)
AEDs in breast milk
Valproate, phenobarbital, phenytoin, and carbamazepine are not excreted in breast milk to the extent of lamotrigine, gabapentin, levetiracetam, and topiramate
Physiologic Changes in Pregnancy
Some of the physiologic changes that may alter AED levels include major hormonal shifts, changes in body mass, increased renal blood flow, hepatic enzyme induction, decreased albumin levels, and decreased absorption
Hypercoagulability in pregnancy
- multiple hematologic changes occur –> hypercoag state
- Fibrin generation is increased & fibrinolytic activity is decreased.
- Levels of factors II, VII, VIII, and X are all increased. Protein S and acquired resistance to activated protein C also occur. Also elevation in D-dimer
- hypercoagulable state is most pronounced near the end of the third trimester and postpartum.
Reversible Cerebral Vasospasm Syndrome (RCVS)
- presents with a thunderclap headache
- pathophys: related to endothelial dysfunction –> hypertension and vasospasm
- ddx: SAH and CVT
- MRA shows vessel beading similar to that seen in vasculitis, but with a very different presentation.
- Tx: BP control, seizures (AED), antianalgesic (HA), and nimodipine
Palatal myoclonus
- rhythmic palatal movements –> audible clicks due to eustachian tube contractions
- may be primary or secondary ( to brainstem lesion interupting the guillain-mollaret triangle inv dentate nucleus, inferior olive, and red nucleus)
- may persist during sleep
- MRI may demonstrate HYPERTROPHY of inf olive
Paroxysmal Dyskinesias
3 types: kinesogenic, non kinesogenic, and exertional (what triggers the episode)
- kinesogenic: episodes last seconds to 5 mins. triggered by sudden movement, including startle and hyperventilation. genetic component. responds well to AEDs
- nonkinesogenic: 2 mins - hours. no clear triggers. do not respond to AEDs
- exertional: triggered by prolonged exercise, last 5-30 mins. tx inlcudes ketogenic diet
Stiff Person Syndrome
- begins in 4th/5th decade of life
- increased tone affecting predominantly axial muscles (paraspinals –> lumbar lordosis, and abdominal muscles –> “board like” abdomen)
- limbs can be involved
- muscle spasms can be triggered by movement, touch, emotion, and startle
- anti-GAD antibodies (autoimmune)
- GAD = glutamic acid decarboxylase (involved in GABA synthesis, which is an inhib neurotransmitter)
- tx: benzo and baclofen (GABA effect); if doesn’t respond, can then consider IVIG
Alcoholic Ataxia
- alcohol is toxic to cerebellum
- predom affects midline structures (vermis) –> truncal ataxia with sparing of limbs
- wide-based, “lurching” gait
- can also lead to eventual hemispheric atrophy with limb involvement
Causes of acquired cerebellar ataxia
- hypothyroidism
- chemotherapy (5-FU, cytarabine)
- metals (mercury, bismuth salicylate, toulene)
- chronic use of phenytoin (damage to purkinje cells)
- HIV, whipple’s disease
- millerfisher variant GBS
Friedrich’s Ataxia
Autosomal recessive; trinucleotide repeat expansion of GAA on frataxin gene on Ch 9
- cerebellar dysfunction, neuropathy, UMN findings
- high arched feet, spinal deformities, cardiac (conduction blocks, cardiomyopathy)
Ataxia-telangiectasia
- autosomal recessive dx, presents in childhood
- neuropathy, ataxia, EOM abnormalities (inability to move eyes without head thrusting)
- telangiectasias present in oral mucosa and conjunctiva
- increased risk of hematologic malignancies and prone to infections due to immunodeficiency
- mutation in ATM gene on Ch 11 –>impaired DNA repair
Fragile X Syndrome
- CGG repeat in FMR1 gene on chr X
- tremor, ataxia, parkinsonism, dysautonomia, cognitive decline
- men > women
- MRI: T2 hyperintensities in cerebellum and inferior cerebellar peduncle
Fahr’s disease
BL calcification of BG and cerebellum
“striopallidodentate calcinosis”;
parkinsonism (rigidity, bradykinesia, dysarthria)
ataxia, dystonia, chorea, cognitive impairment
age of onset 20-60
various modes of inheritance
Synucleinopathies
- parkinsons
- LBD
- MSA
Tauopathies
PSP
Frontotemporal dementia
CBD
Anti-Hu AB
- usu in setting of small cell lung CA
- associated with peripheral neuropathy and sensory neuropathy
Anti-voltage gated calcium channel AB
- associated with small cell lung CA
- Lambert Eaton syndrome
Anti-Yo AB
- associated with ovarian and breast CA
- manifests with cerebellar degeneration
Anti-Ri AB
- asso with lung/breast CA, gynecologic
- opsoclonus myoclonus with or w/o ataxia
Anti-MAG AB
- target myelin-associated glycoprotein
- associated with MGUS
- causes demyelinating neuropathy
Meralgia paresthetica
- mononeuropathy of lateral femoral cutaneous nerve
- purely sensory nerve (L2, L3)
- numbness, paresthesias, pain in anterolateral thigh worse with standing and walking, better with flexion at hip/sitting
- due to compression or trauma to nerve
Lheber’s Hereditary Optic Neuropathy (LHON)
- mitochondrial dx
- produces bilateral optic neuropathy
- age of onset 15-35 years; painless central vision loss which is permanent
- exam: hyperemia of optic head with edema and focal hemorrhages
Fatal Familial Insomnia
- prion disease
- characterized by progressive worsening insomnia, impaired autonomic and motor functions, dementia, and death
Pharmacologic etiologies of painless myopathies
- corticosteroids
- antibiotics
- D- penicillamine
- colchicine
- beta-blocker
- chloroquine/hydroxychloroquine
Paramyotonia Congenita
myopathic channelopathy
autosomal dominant Na channel mutation
presents in first decade of life with stiffness/weakness worsened by exercise and cold exposure
Mononeuritis multiplex
- asymmetric weakness, beginning distally in hands without sensory involvement
- motor involvement in at least 2 nerve distributions
- immune mediated disorder; tx of IVIG
- EMG with “pseudo-conduction block” , evolves towards axonal neuropathy
- associated with ANCA-vasculitis, HIV, Churg-strauss, sarcoid, lyme, DM, lymphoma, RA, sjogren’s, cryoglob
CADASIL
- cerebral autosomal dominant associated with subcortical infarcts and leukoencephalopathy
- Notch 3 mutation –> vasculopathy in small to medium cerebral arteries
- onset in adulthood, usually with migraine with aura
- mood dx, ischemic strokes, gait disorder, dementia
- MRI: WM hyperintensities (frontal, temporal, subinsular) with sparing of U fibers; microbleeds common
Hemiballismus
usually due to lesion in contralateral subthalamic nucleus
Acute disseminated encephalomyelitis (ADEM)
- acute, monophasic, demyelinating process, commonly following vaccines or viral infections
- perivascular inflammation, edema, and demyelination of CNS with rapid onset focal or multifocal neurologic deficits
- char sx: abrupt onset bilateral optic neuritis, impaired consciousness, meningismus, loss of DTR with intact abdominal reflexes, fever, seizures, limb pain
- compared to MS: patients recover more rapidly (days); sx do not recur, recovery is more complete, serial imaging with resolution of lesions, normal CSF IgG
- acute tx: IV steroids
Whipple’s disease
- gram positive bacillus
- systemic sx, usu GI and rheumatologic
- abdominal pain, diarrhea, arthralgias, malabsorption, weight loss for years
- 10-15% with CNS manifestations
- dementia, myoclonic jerks, vertical opthalmoplegia
- oculomasticatory myorhythmia (penduncular vergence ocular movements with concurrent masticulatory muscle contraction is pathognomonic)
Anti-Ma2
associated with testicular tumors
peripheral nervous system involvement
Adrenoleukodystrophy
- most common peroxisome disorder
- x-linked recessive dx due to accumulation of very long chain fatty acids in brain, testes, and adrenal glands
- mutation in ABCD1
- learning disability, behav problems, severe progressive paralysis; hyperpigementation (increased ACTH), adrenal crisis, gonadal failure
- age 4-8
- MRI with demyelination in cerebral white matter
Anterior ischemic optic neuropathy
- idiopathic infarct of anterior portion of optic n
- painless, sudden, monocular vision loss
- incomplete vision loss (inferior or superior altitudinal visual field defect
- swollen optic disk on fundoscopy (diagnostic)
Gaucher disease
- lysosomal storage disease –> glucocerebroside accumulation in macrophage lysosome
- accum in liver, spleen, bone –> hepatosplenomegaly, thrombocytopenia, bone disease, bleeding, anemia
- most common in ashkenazi jews
- life expectancy til 6th decade
- tx: enz replacement
Behcet’s disease
- recurrent oral ulcerations + various neurologic, GI, vascular, ocular, and genital involvement
- ocular disease occurs in 70% (uveitis, retinitis)
- genital ulcerations common
- neuro: parenchymal lesions; CVT, arterial dissection, intracranial HTN, strokes
Vestibular neuritis
- inflammation of vestibular nerve –> vertigo
- NO hearing loss
- reduced/absent caloric response on affected side
- acute onset, persistent symptoms in acute phase
- tx: steroids (acute), IV hydration, antiemetics; then vestib rehab
Labrynthitis
- inflammation of cochlea and vestibular organ –> vertigo AND hearing loss on affected sode
Meniere’s (endolymphatic hydrops)
- vertigo lasting for at least 20 mins, documented hearing loss during episode, tinnitus/aural fullness in affected ear
BPPV
- lasts for seconds to minutes (transient)
- associated with head movements
- typically resolves when laying supine
Neurotransmitters
Raphe nuceli = Serotonin Dopamine: Substantia nigra and ventral tegmentum NE = locus coreulus Histamine = tubulomammilary bodies Ach = Nucleus basalis of Meynert
Parinaud’s syndrome
Lesion in dorsal midbrain
- impaired voluntary upgaze, pursuit + saccades
- light-near disassociation
- mydriasis
- pupillary areflexia
- lid retraction
- convergence retraction nystagmus
Ataxia telangiectasia
triad of ataxia, telangiectasia, and sinupulmonary infections
- autosomal recessive, ATM gene on Ch 11
- asso with lymphomas/leukemias, chorea-athetosis
- AFP and CEA elevation in serum
-
Familial Hemiplegic migraine
- autosomal dominant channelopathy
- migraines with auras with unilateral hemiparesis which lasts up to several hours
- most common variant is Ca chanelopathy on Ch 19
Pick’s disease (Frontotemporal dementia)
- behav changes precede dementia
- change in control of behav, emotions, personality, and language
- pick bodies (accumulations of abnormal tau bodies)
- speech may become nonfluent (aphasia) but comprehension in intact
- NOT associated with memory loss or diorientation in time and space
Cranial Nerve III
- pupillary sympathetic fibers travel on the outside, are closest to nutrient supply, and spared in most cases of ischemic third nerve palsy
- motor fibers travel on the interior of the nerve and are most susceptible to ischemic disease or infarction (HTN, HLD, DM2)
Foster Kennedy Syndrome
Result of an intracranial mass which unilaterally compresses the optic nerve, resulting in swollen optic nerve on one side (because of increased ICP) and an atrophic nerve on the other side due to compression by the mass. –> blind spot in side with swollen optic nerve, and visual field defect on the side with atrophic nerve
- usu 2/2 to olfactory groove meningioma
Glioblastoma pathology
small cells, necrotic foci, pseudopalisading, vessels similar to renal glomeruli
Multifocal Motor Neuropathy
- purely motor demyelinating neuropathy
- asymmetric weakness, hypo/areflexia in distribution of affected nerve
- may have decreased vibration in the distribution of affected nerve, but otherwise no sensory deficits
- EMG shows conduction block and normal sensory nerves
- CSF IS NORMAL (unlike AIDP or CIDP)
- Tx: IVIG (does not respond to plex or steroids)
Subacute combined degeneration
2/2 to Vitamin B12 deficiency
- macrocytic anemia, loss of vibration and touch, ataxia
- serum would reveal elevated homocysteine and MMA levels (in folate deficiency, only homocysteine is increased)
Genetic Parkinson’s
- called PARK1, PARK2, PARK3 depending on char
- autosomal recessive inheritance
- earlier onset (30s), more symmetric, more prominent dystonia at onset, and lacks lewy bodies
- good response to levadopa
Interstitial nucleus of Cajal
center for vertical gaze holding
Centers for horizontal gaze holding
nucleus prepositus hypoglossi
medial vestibular nucleus
Wernicke’s Encephalopathy
- thiamine deficiency
- ataxia, amnestic state (confusion), and diplopia (EOM abnormalities)
- risk fx: hyperemesis gravidum, eating disorder
REM sleep behavior dx
- sleep study with lack of atonia during REM sleep
- tx: melatonin (6-15 mg qHS); second line= klonopin
Kleine levin syndrome
occurs in male adolescents
- repeated episodes of excessive daytime sleepiness with hyperphagia, agressiveness, and hypersexuality
Ideamotor apraxia
inability to imitate goal directed movements, including gestures or use of tools
- may retain ability to make these movements spontaneously (hand waving)
- recog the movement when performed by others
- due to lesions of left parietal and premotor area, or SMA
- also occur with parkinson’s alzheimer’s, CBD
Lafora disease
Progressive myoclonic epilepsy
- onset in childhood
- myoclonus, GTC, and neurologic deterioration
- partial visual seizures of occipital onset –> visual hallucinations, scotomas, and transient blindness
- death within several years of onset
- autosomal recessive; mutation in laforin gene (tyrosine kinase inhibitor)
PCP intoxication
- tachycardia, hypertension, hallucinations, violent behavior, vertical nystagmus, and analgesia
- other sx: mydriasis, ataxia, psychosis, amnesia, seizures, disassociation
- works by NMDA antagonism
Akinetic mutism
- executive problem due to injury to premotor/prefrontal area
- lack of spontaneous motor response in an individual who is awake
- will have WD response to noxious stimuli; tone/reflexes intact
- due to BL damage to frontal lobes –> impaired activation of motor system
Prosencephalon (forebrain)
gives rise to teleencephalon and diencephalon
Teleencephalon
cerebral hemispheres, lateral ventricles
Diencephalon
thalamus, hypothalamus, retina, pineal gland, third ventricle
mesencephalon (midbrain)
midbrain, cerebral aqueduct
Rhombencephalon (hindbrain)
metencephalon (pons, cerebellum, upper part of fourth ventricle)
myelencephalon (medulla, lower part of fourth ventricle)
Manganese toxicity
usually due to exposure (inhalation in mine workers, parental nutrition); also common in liver disease
- headaches, neuropsychiatric “manganese madness”, parkinsonism
- MRI: high signal in striatum, midbrain, and globus pallidus BL
- tx: EDTA chelation (levadopa minimally helpful)
Pentothenate kinase associated neurodegeneration (PKAN)
neurodegeneration with brain iron accumulation
- parkinsonism, dystonia, cognitive decline, spasticity, ataxia, dev delay, seizures
- MRI with “eye of the tiger sign” increased signal in medial globus pallidus with surrounding zone of hypointensity
- tx: chelation with deferoxamine
CA which cause hemorrhagic mets to brain
- RCC, melanoma, papillary thyroid carcinoma, choriocarcinoma, non-small cell lung cancer
Conditions associated with berry aneurysms
- PCKD, coarctation of aorta, ehler’s danlos, and marfan
Kluver-bucy syndrome
lesion in bilateral medial temporal lobes and amygdala
- hypersexuality, hyperorality, visual agnosia, hypokinesia, and blunted emotional affect
Paraneoplastic cerebellar degeneration
- associated with small cell, ovarian, breast, and hodgkin’s lymphoma
- dysarthria, ataxia, nystagmus, nausea/v, diplopia
- progresses rapidly, patients can be disabled within days to weeks followed by a variable plateau period
Subcortial band heterotopia
- migrational defect
- affects females more than males
- DCX mutation on X chromosome
- associated with epilepsy
Diabetic amyotrophy
- vasculitic axonal neuropathy presents with acute onset severe thigh pain
- sx extend from one limb, then spread contralaterally, followed by atrophy and weakness
- course is limited; but deficits can remain
- precipitated by weight loss
- not associated with BG control or duration of DM2
Genes associated with early onset alzheimer’s
- PSN 2 on Chromosome 1
- PSN 1 on chromosome 14
- APP on chromosome 21
all are autosomal dominant
Pseudobulbar affect
- involuntary emotional expression
- diffuse degeneration of bilateral corticobulbar tracts in patients with ALS, MS or TBI
- tx: dextromethorphan-quinidine, SSRI, TCA
Foster Kennedy Syndrome
- ipsilateral optic atrophy with contralateral papilledema due to olfactory groove meningioma
Biswanger’s Disease
Need dx of dementian plus 2 of the following:
- HTN or vascular disease
- BL abnormalities on MRI “leukoaraisos” (WM attenuation)
- neuro sx: pyramidal signs (reflex asymm, rigidity, lmb/gait ataxia); pseudobulbar palsy
- syncope due to cerebral perfusion is also common presenting sx
Periodic hyperkalemic paralysis
- dx of muscle membrane excitability resulting from Na channel disorder
- inactivation of Na channel on skeletal muscle membrane prevents AP from being produced –> weakness and paralysis
- attacks are frequent, focal, and short (15 mins - hours)
- attacks precipitated by poor PO intake and potassium
- myotonia on EMG
- can do prophylaxis with HCTZ or acetazolamide
Critical Illness Polyneuropathy
distal, symmetric, motor and sensory axonal neuropathy
- distal loss of pain, temp, vibration with flaccid symmetric weakness and hyporeflexia
- involv of phrenic nerve –> difficulty weaning from vent
- EMG: reduced CMAP and SNAP with preserved conduction velocities (after 2-5 days). Fibrillation potentials and sharp waves can occur after 2-3 weeks
Meige Syndrome
characterized by blepharospasm and tongue/jaw contractions (oromandibular dystonia); can occasionally get tongue protrusions from tongue spasms
- tx: botox injections
Circuit of Papez
entorhinal cortex –> hippocampus –> fornix –> mammillary bodies –> anterior nucleus of thalamus –> cingulate gyrus –> entorhinal cortex –> hippocampus
SUNCT
- short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing
- more likely to affect the first division of the trigeminal nerve (V1)
- duration: 5-240 seconds, up to 200 x’s/day
- tx: lamotrigene ***INDOMETHACIN IS NOT HELPFUL
Hemicrania continua
- Continuous symptoms: exacerbations last hours, but intensity can fluctuate; has to be present for at least 3 months and accompanied by autonomic fx
- tx: indomethacin
Paroxysmal hemicrania
- duration: 2-30 minutes
- tx: indomethacin
Cluster headache
- duration: 15 mins - 180 mins, ipsilateral autonomic fx
- tx: oxygen, triptan, DHE for abortives; verapamil for prophylaxis
Trigemimal neuralgia
- duration <1 s
- no accompanying autonomic features; tend to involve V2/V3 branches of the nerve
- tx: carbamazepine
Primary stabbing headache
- duration <1 s
- stabbing, ice-pick sensation
- tx: indomethacin, celecoxib, melatonin
Genes associated with early onset Alzheimer’s
- presenillin 1 (Ch 14)
- presenillin 2 (Ch 1)
- APP (Ch 21)
Most common adult brain tumors
- mets from a primary solid tumor (non–small cell lung carcinoma, breast cancer, and small cell lung carcinoma, followed by melanoma, renal cell carcinoma, and gastrointestinal tumors)
- meningioma (most common extra-axial tumor)
- GBM: most common primary malignant tumor
Most common peds brain tumors
in descending: astrocytoma, medulloblastoma, and ependymoma.
Good prognostic indicator of GBM
- IDH wild-type mutation
- MGMT mutation (epigenetic silencing via methylation) - indicates better response to chemotherapy
Cranial Nerve XII function
- innervated trapezius and SCM
- ipsilateral head tilt
- contralateral head rotation
- therefore, left CN 12 causes: head rotation to the right, enables left ear to touch left shoulder (head tilt)
Prosopragnosia
- associated with lesions in fusiform gyrus
- inability to recognize familiar faces
Dressing apraxia
- associated with non-dominant parietal lobe
Chordoma
- malignant neoplasms arise from remnants of notocord
- sacrococcygeal location is most common, followed by spheno-occipital, spine and clivus
- typical honeycomb appearance on MRI with contrast
- tx: surgical resection followed by xrt
- high rate of recurrence with distance mets
Emery- Dreifuss Muscular dystrophy
- x-linked form: deficiency in protein Emerin
- AD form: LMNA, encodes laminin
- features: contractures of elbows, ankles, and neck. cardiac conduction defect requiring PPM, UE/shoulder girdle weakness before legs/hips
- tx: PT with exercise
Fascio-brachio-dystonic seizures
associated with LGI1
Myotonic Dystrophy Type 1
- AD, repeat expansion of CTG in myotonic dystrophin kinase gene on Ch 19
- char by myotonia and weakness: facial muscles (lev palpebrae, temporalis, SCM) –> temporal wasting and characteristic facial appearance
- also weakness of ankle dorsiflexors, intrinsic hand muscles, distal forearm
- other fx: muscle pain, cardiac arrhythmias, daytime somnolence, frontal balding, cataracts
Sx of cholinergic crisis
bradycardia, diarrhea, diaphoresis, pinpoint pupils, lacrimation, salivation, bronchorrhea, bronchospasm, urination, emesis
Contents of carotid sheath
CN 9, 10, 12
Jugular Vein
Carotid artery
Contents of jugular foramen
CN 9, 10, 11, 12
Contents of cavernous sinus
CN 3, 4, 6, V1, V2 and sympathetics of CN 3 (–> horner syndrome)
