First aid neuro pathology Flashcards

1
Q

Dementia

A

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

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2
Q

Alzheimers disease:

what is the Apo that is protective and chromosome?

A

ApoE2 (chromosome 19)

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3
Q

Alzheimers disease:

what is the proteins related to early onset and chromosome?

A

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

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4
Q

Alzheimers disease:

what is the proteins related to LATE onset and chromosome?

A

ApoE4 (Chromosome 19)

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5
Q

Alzheimers disease

A
  • 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
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6
Q

Pick disease (frontotemporal dementia)

A
  • 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
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7
Q

Lewy body dementia

A

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

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8
Q

Creutzfeldt-jakob disease

A

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

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9
Q

Other causes of dementia?

A

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

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10
Q

Partial focal seizures

A
  • 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

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11
Q

epilepsy

A

a disorder of reoccurant seizures

NO fever!!!

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12
Q

status elipticus

A

-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

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13
Q
Generalized seizure (diffuse):
absence (petit mal)
A

no postictal confusion, blank stare

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

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14
Q
Generalized seizure (diffuse):
myoclinic
A

quick repetitive jerks

treat with valproic acid

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15
Q
Generalized seizure (diffuse):
tonic-clonic
A

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

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16
Q
Generalized seizure (diffuse):
tonic
A

stiffening

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17
Q
Generalized seizure (diffuse):
atonic
A

drop seizures falls to floor

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18
Q

MS basics

A
  • 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
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19
Q

Charcots Triad

A

MS: SIN

Scanning speech

Intention tremor/Incontience and Internuclear opthalmoplegia

nystagmus

20
Q

Marcus Gunn pupil

A

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

21
Q

MS findings

A

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

22
Q

How to treat MS?

A

beta-interferon
immunosupression
natalizumab

Treat neurogenic bladder:
-catheterization, muscarinic antagonists)

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

23
Q

Natalizumab

A

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

24
Q

Guillain-Barre syndrome

acute inflammatory demyelinating polyradiculopathy

A
  • 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
25
Q

Infections assoc with Guillain-barre

A

campylobacter jejuni
CMV

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

26
Q

Progressive multifocal leukoencephalopathy

A
  • 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
27
Q

Acute disseminated (post infectious) encephalopmyelitis

A
  • multifocal perivenular inflammation and demyelination after infection
  • commonly VSV, measles (rubeola)
  • vaccines (rabies, small pox)
28
Q

Metachromatic leukodystrophy

A

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

29
Q

Charcot-Marie-Tooth Disease

A

-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)
30
Q

Krabbe disease

A

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

31
Q

Adrenoleukodystrophy

A

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
32
Q

Cluster headache

A
  • unilateral
  • 15min - 3 hours
  • repetitive brief headaches, excruciating perioprbital pain with lacrimation and rhinorrhea. may induce horner syndrome

treat:
O2 and sumatriptan

33
Q

Trigeminal neuralgia

A
  • repetitive shooting pain in the distribution of CN V that lasts typically for < 1 minute
    treat: carbamazepine
34
Q

Tension headache

A
  • bilateral
  • > 30 minutes typically 4-6 hour, constant
  • steady pain, no photophobia or phonophobia
  • no aura

treat: analgesics, NSAIDS, acetaminophen; amitriptyline for chronic pain

35
Q

Migraine

A
  • 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

36
Q

Vertigo

A

sensation of spinning while actually stationary

37
Q

Peripheral vertigo

A

More common:

  • inner ear: semicircular canal debris, vestibular nerve infect meniere disease
  • postiti testing–> delayed horizontal nystagmus
38
Q

Central vertigo

A

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

39
Q

Sturge weber syndrome mutation?

A

activating mutation of GNAQ gene

-congenital, non-inhereted (somatic during fetus), developmental anomaly of neural crest derivatives (mesoderm/ectoderm)

40
Q

Sturge-Weber Syndrome

A

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
41
Q

NF type 1 mutation and chromosome?

A

NF1 tumor supressor gene (neurofibromin a regulator of RAS)

chromosome 17

42
Q

Neurofibromatosis type 1

A

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

43
Q

Von-Hippel-Lindau disease mutation and chromosome?

A

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

44
Q

Von-Hippel-Lindau

A

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

45
Q

STURGE

A
STURGE:
sporadic
portwine
tram track Ca on opposing gyro
unilateral
retardation
glaucoma
GNAQ gene
epilepsy
46
Q

Tuberous sclerosis

A
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