Flashcards in 483-485 (except seizures) Deck (39)
What chromosome is APP found on?
What chromosome is presenilin-1 found on?
What chromosome is presenilin-2 found on?
What chromosome is ApoE4 found on?
Is ApoE4 associated with early or late onset Alzheimer's?
What is the neurotransmitter imbalance in Alzheimer's?
What are two histological findings associated with Alzheimer's
1. senile plaques
2. neurofibrillary tangles
What are senile plaques? What might they cause?
they are extracellular with a β amyloid core, and may cause amyloid angiopathy → intracranial hemorrhage
What are NFTs?
intracellular accumulation of hyperphosphorylated tau protein (insoluble cytoskeletal elements)
tangles correlate with degree of dementia
What are 4 key signs of Pick disease?
3. parkinsonian aspects
4. change in personality
What areas of the brain are spared in Pick disease?
parietal lobe and posterior 2/3 of superior temporal gyrus
What histological/gross findings are characteristic of Pick disease?
spherical tau protein aggregates; frontotemporal atrophy
What is the clinical course of Lewy body dementia?
Initial dementia and visual hallucinations followed by parkinsonian features?
What is defected in Lewy body dementia?
How does CJD present?
Rapidly progressive (wks-months) dementia with myocolonus
What are the gross and histologic findings of CJD?
Gross: spongiform cortex
Histo: Prions in β pleated sheet resistant to proteases
What are 6 "other" causes of dementia?
1. multi-infarct (2nd most common cause of dementia in elderly)
4. vitamin B1, B3, B12 deficiency
5. Wilson disease
5. NPH (normal pressure hydrocephalus)
What are Marcus Gunn pupils? What condition are they found in?
In swinging light test, pupil is constricted when shining light in opposite eye, but less constricted when swing light over to the affected eye (so it looks like it's dilating). It is a problem with the afferent part of the pupillary light reflex commonly associated with MS.
Classic "triad" of MS
Intention tremor/ Incontinence / Internuclear opthalmoplegia
Diagnostic finding for MS in CSF?
↑ protein (IgG) → oligoclonal bands
Treatments for MS?
-IFN-β (reduces relapses, not for progressive form of MS),
- natalizumab (prevents transmigration)
- for neurogenic bladder: catheterization, muscarinic antagonists [eg. oxybutynin]
- for spasticity: GABA receptor agonist s.a. baclofen
- pain: opiods
What is the most common variant of Guillain-Barré syndrome?
Acute inflammatory demyelinating polyradiculopathy
What is Guillain-Barré syndrome?
Autoimmune condition that destroys Schwann cells, causing demyelination of peripheral nerves and motor fibers.
What are two infections associated with Guillain-Barre?
C. jejuni, CMV
What proportion of patients w/ G.B.S. develop facial paralysis?
What are some autonomic findings associated with G.B.S.?
cardiac irregularities, hypertension, hypotension
Treatment for GBS?
Respiratory support, plasmapheresis, IVIG
What are lab findings in GBS?
↑ CSF protein w/ mml cell count = albuminocytologic dissociation
↑ protein → papilledema
What leads to PML?
JC virus → destruction of oligodendrocytes → CNS demyelination
What is Acute disseminated (post infectious) encephalomyelitis? What are the causes?
Multifocual perivenular inflammation and demyleination after infection (commonly measles or HSV) or certain vaccinations (eg. rabies, smallpox)
What is metachromatic leukodystrophy?
AR lysosomal storage dz, commonly due to arylsulfatase A deficiency → buildup of sulfa tides → impaired production of myelin sheath → central and peripheral demyelination with ataxia, dementia
Charcot-Marie-Tooth disease.. another name?
hereditary motor and sensory neuropathy (MHSN)
hereditary n. d/o (usually AD)→ defective production of proteins involved in structure/function of peripheral nn. or the myelin sheath → scoliosis and foot deformities (high or flat arches)
Krabbe dz pathogenesis
AR lysosomal storage disease due to deficiency of glactocerebrosidase → buildup of galactocerebroside and psychosis → destruction of myelin sheath
Krabbe dz symptoms
1. peripheral neuropathy
2. developmental delay,
3. optic atrophy
4. globoid cells
X-lined genetic d/o (♂>♀ ) → disruption of very long chain FA metal → buildup in NS, adrenal gland, testes → progressive dz → long-term coma/death, adrenal gland crisis
What can be used to treat tension headaches?
Amitriptyline for chronic pain
What does STURGE stand for?
Sporatdic, port-wine Stain; Tram track Ca2+ (opposing gyro); Unlateral; Retardation; Glaucoma, GNAQ gene; Epilepsy