Term
| APP gene is associated with ___ |
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Definition
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Term
| presenilin-1 or 2 gene is associated with ___ |
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Definition
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Term
| ApoE4 gene is associated with ___ |
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Definition
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Term
| ApoE2 gene is associated with ___ |
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Definition
| protective against Alzheimer's |
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Term
| What brain path are people with Down syndrome at greater risk for? |
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Definition
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Term
Alzheimer's disease:
3 lab/histo findings |
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Definition
- Low ACh
- extracellular β-amyloid plaques
- intracellular neurofibrillary tangles made of abnormally phosphorylated tau protein |
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Term
3 symptoms of Pick's disease
- 1 histo finding
- 1 gross finding |
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Definition
Symptoms: dementia, aphasia, parkinsonism
Histo: pick bodies (abnormal intracellular tau protein)
Gross: Frontotemporal atrophy |
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Term
Multiple sclerosis:
2 lab findings
1 gross finding |
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Definition
Labs: Increased protein (IgG) in CSF, Oligoclonal bands
Gross: periventricular plaques (oligodendrocyte loss plus reactive gliosis) |
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Term
| 2 Vision/eye findings in MS |
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Definition
optic retinitis
MLF syndrome (intranuclear opthalmoplega: impaired adduction of one eye plus nystagmus on lateral gaze of the other) |
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Term
| 3 Symptoms of Guillan-Barré |
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Definition
Symmetric ascending muscle weakness
Sometimes facial paralysis
Autonomic function problems
Recover completely after weeks-months |
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Term
| What causes Guillan-Barré? |
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Definition
Post-infection autoimmune reaction (due to molecular mimicry) causing inflam. and demyelination of peripheral nerves and ventral roots
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Term
| Give 1 lab finding in Guillan-Barré |
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Definition
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Term
What is PML and what causes it?
What is it assoc with? |
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Definition
demyelination of CNS due to destruction of oligodendrocytes
Assoc. with JC virus in AIDS patients (fatal) |
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Term
| What are 2 results of Acute disseminated (postinfectious) encephalomyelitis? |
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Definition
After infection or vaccine:
Multifocal perivenular inflam.
Demyelination |
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Term
Metachromatic leukodystrophy:
- what is it
- what causes it
- what is the result? |
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Definition
An autosomal-recessive lysosomal storage disease
Cause: arylsulfatase A deficiency
Result: build up of sulfatides leads to crappy myelin production |
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Term
| What is and what causes Charcot-Marie Tooth disease? |
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Definition
Hereditary motor and sensory neuropathy- progressive
From defective protein production for peripheral nerves and myelin |
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Term
| What's the difference between a simple partial and complex partial seizure? |
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Definition
simple= no loss of consciousness
complex= consciousness |
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Term
| What is an atonic seizure? |
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Definition
| "drop" seizure- fall on the floor (might mistake for fainting) |
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Term
| What causes a migraine headache? (4) |
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Definition
| irritation of CN V and release of substance P, CGRP, and vasoactive peptides |
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Term
| What's the difference between a migraine and a tension headache? |
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Definition
Migrain lasts 4-72 hours, is unilateral, may have an aura, and is aggravated by other senses
Tension headache lasts 30+ minutes, is bilateral, no aura, and is not affected by light or sound |
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Term
| 3 clinical findings in Sturge-Weber syndrome |
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Definition
Port-wine stains on face
Ipsilateral leptomeningeal angiomas (vascular malformation in brain)
Pheochromocytoma |
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Term
| 5 clinical findings in Tuberous sclerosis |
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Definition
Hamartomas
Mitral regurg.
Ash-leaf spots (white patch on skin)
Mental retardation
Seizures
(also cutaneous angiofibromas, cardiac rhabdomyoma, and renal angiomyolipoma) |
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Term
What is this and what is it associated with?
[image] |
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Definition
| Ash leaf spot- tuberous sclerosis |
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Term
| Give 5 clinical findings in Neurofibromatosis type 1 |
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Definition
Café-au-lait spots
Lisch nodules (pigmented iris hamartoma)
Neurofibromas (in skin)
Optic gliomas
Pheochromocytoma |
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Term
| What gene and chromosome are mutated in Neurofibromatosis type 1? |
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Definition
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Term
| Give 4 clinical findings in von Hippel-Lindau disease |
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Definition
Cavernous hemangiomas
bilateral renal cell carcinoma
Hemangioblastoma in retina, brainstem, cerebellum
Pheochromocytoma |
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Term
| What gene and chromosome is mutated in von Hippel-Lindau disease? |
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Definition
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Term
| Where are most adult vs. childhood brain tumors located? |
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Definition
adult: supratentorial
child: infratentorial |
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Term
| What is the most common adult brain tumor? |
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Definition
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Term
Glioblastoma multiforme:
- who
- where
- what cells
- diagnostic feature (2) |
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Definition
Who: adults
Where: cerebral hemispheres (can cross)
Cells: astrocytes- stains GFAP
Pseudopalisading (tumor cells border central necrosis and hemorrhage) |
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Term
Meningioma:
- who
- where
- what cells
- diagnostic feature (2) |
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Definition
Who: adults
Where: convexivities of brain and parasagittal region
Cells: arachnoid cap cells
Diagnostic: spindle cells in whorled pattern with psammoma bodies |
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Term
Schwannoma:
- who
- where
- what cells
- diagnostic feature (2) |
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Definition
Who: adults
Where: CN VIII (or other CNs except CNI) in cerebellopontine angle
Cells: Schwann cell
Diagnostics: S-100 positive, bilateral in NF type 2 |
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Term
Oligodendrocytoma:
- who
- where
- what cells
- diagnostic feature (3) |
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Definition
Who: adults
Where: frontal lobes
Cells: oligodendrocytes
Diagnostics: slow growing, clear cytoplasm, can be calcified |
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Term
Pilocytic astrocytoma:
- who
- where
- what cells
- diagnostic feature (3) |
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Definition
Who: kids
Where: posterior fossa
Cells: astrocytes
Diagnostics: GFAP positive, cystic and solid on gross, Rosenthal fibers (eosinophilic, corkscrew fibers) on histo
(is benign) |
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Term
Medulloblastoma:
- who
- where
- what cells
- diagnostic feature (2) |
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Definition
Who: kids
Where: cerebellum
Cells: primitive neuroectodermal cells
Diagnostics: Rosettes (perivascular), small blue cells
(highly malignant) |
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Term
Ependymoma:
- who
- where
- what cells
- diagnostic feature (3) |
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Definition
Who: kids
Where: in 4th ventricle
Cells: ependymal cells
Diagnostics: hydrocephalus, perivascular psuedorosettes, Rod-shaped blepharoplasts (basal ciliary bodies found near nucleus) |
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Term
Hemangioblastoma:
- who
- where
- diagnostic feature (3) |
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Definition
Who: kids
Where: cerebellar
Diagnostics: Assoc. with von Hippel-Lindau syndrome, can produce EPO, see foamy cells and high vascularity |
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Term
Craniopharyngioma:
- who
- where
- what cells
- diagnostic feature (2) |
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Definition
Who: kids
Where: near pituitary gland
Cells: remnants of Rathke's pouch
Diagnostics: calcification (tooth-enamel like), bitemporal hemianopia |
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Term
Brain tumor in a child, what is it? :
[image]
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Definition
pilocytic astrocytoma
See Rosenthal fibers |
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Term
Brain tumor in a child, what is it? :
[image] |
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Definition
medulloblastoma
Notice the rosettes and small blue cells |
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Term
Brain tumor in a child, what is it? :
[image] |
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Definition
ependymoma
notice perivascular psudorosettes and blepharoplasts |
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Term
Brain tumor in a child, what is it? :
[image] |
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Definition
hemangioblastoma
notice foamy cells and lots of vascularity
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Term
Give 3 clinical signs of an uncal herniation
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Definition
Ipsilateral dilated pupil/ptosis (stretching of CN III)
Contralateral homonymous hemianopia (compression of PCA)
Ipsilateral paresis
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Term
Poliomyolitis:
- transmission
- where virus replicates
- result |
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Definition
Fecal-oral transmission
Replicates in oropharynx and intestine
Destroys anterior horn cells leading to LMN syndrome |
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Term
| What is Werdnig Hoffman disease? Describe it. |
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Definition
presents at birth as "floppy baby" (is auto. recessive)
Degeneration of anterior horns resulting in LMN syndrome
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Term
Amytrophic lateral sclerosis (ALS):
- give 2 clinical features
- what causes it? |
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Definition
Both LMN and UMN signs, but motor only and not eyes
Caused by defect in superoxide dismutase 1 (SOD1) |
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Term
What is Tabes dorsalis?
Give 4 symptoms of it |
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Definition
Degeneration of dorsal columns and roots due to tertiary syphilis
Symptoms:
impaired proprioception and ataxia
shooting pain
pupils reactive to accomodation but not to light (aka prostitutes pupils)
sensory ataxia at night |
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Term
| What causes Friedreich's ataxia? |
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Definition
Autosomal recessive GAA repeat in gene that codes for frataxin-> impaired mitochondrial functioning
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Term
| Give 7 clinical features of Friedreich's ataxia |
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Definition
Staggering gait
Falling
Nystagmus
Pes cavus (high foot arch)
Hammer toes
Hypertrophic cardiomyopathy
Kyphoscoliosis |
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Term
| Where are symptoms observed and what are they in brown-sequard syndrome? (hemisection of spinal cord) (3) |
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Definition
Ipsilateral UMN signs and loss of all sensation below lesion
Contralateral loss of pain and temp. below lesion
Ipsilateral loss of all sensation and LMN signs at the level of the lesion |
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Term
| What is normal pressure hydrocephalus and give 3 signs of it |
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Definition
Expansion of ventricles (so accomodate volume and avoid high pressure)
Dementia, ataxia, and urinary incontinence |
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Term
| What causes communicating hydrocephalus? |
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Definition
| Decrease CSF absorption by arachnoid villi (increased intracranial pressure) |
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Term
| What is Hydrocephalus ex vacuo? |
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Definition
| Is actually brain atrophy (like in dementia) and pressure is normal |
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Term
Worst headache of my life= ___
What causes it? |
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Definition
Subarachnoid hemorrhage
From rupture of an aneurysm |
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Term
Brain hemorrhage with transtentorial herniation= ___
What causes it? |
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Definition
Epidural hematoma
rupture of middle meningeal artery
(also get CN III palsy) |
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Term
| Brain hemorrhage with rupture of bridging veins from shaking or brain atrophy= ___ |
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Definition
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Term
What kind of hemorrhage occurs from hypertension or amyloid angiopathy?
Where? |
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Definition
Intraparenchymal hemorrhage
In internal capsule and basal ganglia usually |
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Term
| Give 2 differences between an epidural hemorrhage and a subdural hemorrhage |
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Definition
Epidural: rapid expansion with increase in systemic arterial pressure, biconvex disk that doesn't cross suture lines
Subdural: less pressure- develops slower, crescent-shaped hemorrhage that crosses suture lines |
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Term
| Which type of brain hemorrhage can cause a midline shift? |
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Definition
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