First aid neuro pathology

Question 1

Dementia

Answer 1

a decrease in cognitive ability, memory or function but with intact consciousness

Question 2

Alzheimers disease:

what is the Apo that is protective and chromosome?

Answer 2

ApoE2 (chromosome 19)

Question 3

Alzheimers disease:

what is the proteins related to early onset and chromosome?

Answer 3

APP Chromosome 21
presenilin-1 Chromosome 14
Presenilin-2 Chromosome 1

Question 4

Alzheimers disease:

what is the proteins related to LATE onset and chromosome?

Answer 4

ApoE4 (Chromosome 19)

Question 5

Alzheimers disease

Answer 5

• increase risk with down syndrome
• widespread cortical atrophy, narrowing of gyri and widening of sulci
• decreased ACh
• senile plaques: extracellular B-amyloid core–> amylid angiopathy–> intracranial hemorrhage
• AB (amyloid B) synthesized by cleacing amyloid precurser protein APP
• neurofibrillary tangles: intracellular hyperphosphorylated tau protein = insoluble cytoskeletal elements, tangles correlated with degree of dementia

Question 6

Pick disease (frontotemporal dementia)

Answer 6

• Dimensia, aphasia, parkisonian aspects, change in personality
• spare parietal lob and posterior 2/3 of superior temporal gyrus
• pick bodies spherical tau protein aggregates
• frontotemporal atrophy

Question 7

Lewy body dementia

Answer 7

Initially dementia and visual hallucinations followed by parkinsonia features
-alpha synuclein defect

Question 8

Creutzfeldt-jakob disease

Answer 8

rapidly progressive (weeks to months) demenPrP sheet B pleated sheet resitant to protease

Question 9

Other causes of dementia?

Answer 9

infarcts, syphillis, HIV, vitamins B1,B3,B12 deficits, Wilsons disease and Normal pressure hydrocephalus

Question 10

Partial focal seizures

Answer 10

• affect 1 area of the brain
• most common from medial temporal love
• often preceded by seizure aura
• can secondarily generalize

simple partial: consciousness intact - motor =, snsorym autonomic, psychic
complex partial: imparied consciousness

treat: first line carbamazapine

Question 11

epilepsy

Answer 11

a disorder of reoccurant seizures

NO fever!!!

Question 12

status elipticus

Answer 12

-continuous seizure for > 30 min or recurrent seizures without regaining consciousness between seizures for > 30 min.
medical emergency
causes:
children - genetic, infection, trauma, congenital, metabolic
adults: tumors, stroke, infection
elderly: stroke, turmor, trauma, metabolic, infection

acute: benzodiazepines
prophylaxis: phenytoin

Question 13

Generalized seizure (diffuse):
absence (petit mal)

Answer 13

no postictal confusion, blank stare

treat: ethosuximide sux to have silent seizures
blocks thalamic T type calcium channerls

Question 14

Generalized seizure (diffuse):
myoclinic

Answer 14

quick repetitive jerks

treat with valproic acid

Question 15

Generalized seizure (diffuse):
tonic-clonic

Answer 15

grand mal, alternating stiffening and movement
treat:
phenytoin, carbamazepine, valproic acid

Question 16

Generalized seizure (diffuse):
tonic

Answer 16

stiffening

Question 17

Generalized seizure (diffuse):
atonic

Answer 17

drop seizures falls to floor

Question 18

MS basics

Answer 18

• AI and demyelelination of CNS
• sudden loss of vision resulting in marcus gunn pupils (afferent pupillary defect due to optic nerve damage)
• hemiparesis, hemisensory symptoms, bladder or bowel incontinence
• relapsing and remitting
• women 20-30s diagnosed
• Charcots triad

Question 19

Charcots Triad

Answer 19

MS: SIN

Scanning speech

Intention tremor/Incontience and Internuclear opthalmoplegia

nystagmus

Question 20

Marcus Gunn pupil

Answer 20

can happen in MS
afferent pupillary defect- issue with optic nerve
tested with the swinging flashlight test

Question 21

MS findings

Answer 21

CSF: increased IgG, oligoclonal bands are diagnostic
MRI: gold standard, periventricular plaques (areas of oligodendrocyte loss and reactive gliosis, with destruction of axons. bright patches on FLAIR MRI

Question 22

How to treat MS?

Answer 22

beta-interferon
immunosupression
natalizumab

Treat neurogenic bladder:
-catheterization, muscarinic antagonists)

Spasticity: baclofen, GABA receptor agonist, pain (opiods)

Question 23

Natalizumab

Answer 23

MS:
Natalizumab appears to reduce the transmission of immune cells into the central nervous system by interfering with the α4β1-integrin receptor molecules on the surfaces of cells.

PML
-may increase risk associated

Question 24

Guillain-Barre syndrome

acute inflammatory demyelinating polyradiculopathy

Answer 24

• autoimmune destruction of SCWANN cells–> inflammation and demyelination of peripheral nerves and motor fibers
• symmetrics ASCENDING muscle weakness/paralysis beginning in lower extremities.
• facial paralysis 50%
• Autonomic function –> cardiac irregularities, HTN or hypotension.
• recover completely after weeks or months

Findings:
increased CSF protein with normal cell count (albuminocytologic dissociation), but the increased protein –> papilledema =(

Treat:

• respiratory support
• plasmaphersis or IV IgG

Question 25

Infections assoc with Guillain-barre

Answer 25

campylobacter jejuni CMV AI attack of peripheral myelin due to molecular mimicry, inoculations and stress, but no definitive link to pathogens

Question 26

Progressive multifocal leukoencephalopathy

Answer 26

- assoc with JC virus (DS circular DNA virus - polyomavirus - demyelination of CNS dye to destruction on oligodendrocytes - 2-4% of AIDS patients (reactivation of a latent virus) - rapidly progressive, usually fatal. - Increased risk for associated with the use of natalizumab

Question 27

Acute disseminated (post infectious) encephalopmyelitis

Answer 27

- multifocal perivenular inflammation and demyelination after infection - commonly VSV, measles (rubeola) - vaccines (rabies, small pox)

Question 28

Metachromatic leukodystrophy

Answer 28

Autosomal recessive Lysosomal storage disease Arylsulfatase A deficiency -Build up: sulfatides --> impair production of myelin sheath. Findings: central and peripheral demyelination with ataxia and dementia

Question 29

Charcot-Marie-Tooth Disease

Answer 29

-group of progressive hereditary nerve disorders related to the defective production of proteins involved in the structure and function of peripheral nerves or myelin sheath - autosomal dominant - assoc scoliosis and foot deformities (high or flat arches)

Question 30

Krabbe disease

Answer 30

Autosomal recessive Lysosomal storage disease defiecency of galactocerebrosidase build up: galactocerebroside and psychosine destroys the myelin sheath Findings: peripheral neuropathy, development delay, optic atrophy and globoid cells

Question 31

Adrenoleukodystrophy

Answer 31

X-linked genetic disorder typically affecting males. - disrupts metabolism of very long chain fatty acids - buildup in the nervous system, adrenal glands and testes - progressive disease can lead to long term coma/death or adrenal crisis

Question 32

Cluster headache

Answer 32

- unilateral - 15min - 3 hours - repetitive brief headaches, excruciating perioprbital pain with lacrimation and rhinorrhea. may induce horner syndrome treat: O2 and sumatriptan

Question 33

Trigeminal neuralgia

Answer 33

- repetitive shooting pain in the distribution of CN V that lasts typically for < 1 minute treat: carbamazepine

Question 34

Tension headache

Answer 34

- bilateral - > 30 minutes typically 4-6 hour, constant - steady pain, no photophobia or phonophobia - no aura treat: analgesics, NSAIDS, acetaminophen; amitriptyline for chronic pain

Question 35

Migraine

Answer 35

- unilateral - 4-72 hours - pulsating pain with nausea, photophobia or phono phobia - may have an AURA - irritation of CN v, menimges, r blood veseels (release of supstance P, CGRP, vasoactive peptides) treat: triptans, nsaids prophylaxix: propanolol, topiramate, calcium channel blockers, amitriptylyline. POUND pulsatile, one day, unilateral, nausea, disabling

Question 36

Vertigo

Answer 36

sensation of spinning while actually stationary

Question 37

Peripheral vertigo

Answer 37

More common: - inner ear: semicircular canal debris, vestibular nerve infect meniere disease - postiti testing--> delayed horizontal nystagmus

Question 38

Central vertigo

Answer 38

brain stem or cerebellar lesion findings: directional change of nystagmus, skew deviation, diplopia, dysmetria Positional testing: immediate nystagmus in any direction

Question 39

Sturge weber syndrome mutation?

Answer 39

activating mutation of GNAQ gene | -congenital, non-inhereted (somatic during fetus), developmental anomaly of neural crest derivatives (mesoderm/ectoderm)

Question 40

Sturge-Weber Syndrome

Answer 40

activating mutation of GNAQ gene - congenital, non-inheretied (somatic), developmental anomaly of neural crest derivatives (mesoderm/ectoderm) - affects small blood vessels - portwine stain on face CN V-1,-2 region - ipsilateral leptomeningeal angioma - seizues and epilepsy - intellectual disability - episcleral hemangionam--> increased IOP --> early onset glaucoma ``` STURGE: sporadic portwine tram track Ca on opposing gyro unilateral retardation glaucoma GNAQ gene epilepsy ```

Question 41

NF type 1 mutation and chromosome?

Answer 41

NF1 tumor supressor gene (neurofibromin a regulator of RAS) | chromosome 17

Question 42

Neurofibromatosis type 1

Answer 42

Mutated NF1 tumor supressor gene (neurofibromin a regulator of RAS) chromosome 17 -cafe au lait spots -lisch nodules (pigmented iris hemartomas) -neurofibromas in skin, optic gliomas, pheochromocytoma -Skin tumors of NF-1 Derived from neural crest cells

Question 43

Von-Hippel-Lindau disease mutation and chromosome?

Answer 43

Autosomal Dominant VHL tumor supressor gene Chromosome 3 --> constitutive expression of HIF --> activation of angiogenic growth factors

Question 44

Von-Hippel-Lindau

Answer 44

Autosomal Dominant VHL tumor supressor gene Chromosome 3 --> constitutive expression of HIF --> activation of angiogenic growth factors -cavernous hemangiomas in skin, mucosa, organs, bilateral renal cell carcinomas, hemangioblastoma (high vascularity with hy[erchromatic nuclei) in retina, brain stem and cerebellum and pheochromocytomas

Question 45

STURGE

Answer 45

``` STURGE: sporadic portwine tram track Ca on opposing gyro unilateral retardation glaucoma GNAQ gene epilepsy ```

Question 46

Tuberous sclerosis

Answer 46

``` HAMARTOMAS Hamartomas in CNS and skin Angiofibromas Mitral Regurgitation Ash-leaf spots Cardiac Rhabdomyoma Tuberous sclerosis Autosomal dominant mental retardation renal Angiomyolipoma Seizures Shagreen patches Increased incidence of subependymal astrocytomas and ungual fibromas ```