Which ApoE is associated with a decreased risk of Alzheimer’s disease?
ApoE2
Which ApoE is associated with an increased risk of Alzheimer’s disease?
ApoE4
What are the 2 main histological findings in alzheimer’s disease?
1- senile plaques (extracellular beta amyloid)
2- neurofibrillary tangles (intracellular hyperphosphorylate tau protein)
What chromosome is APP found on?
21!!
“dementia, aphasia,, change in personality, parkinson like symptoms”
Frontotemporal dementia/ Pick disease
Histological findings in Pick disease?
Tau protein aggregates
“demientia that begins with visual hallucinations adn then parkinsons features”
Lewy body dementia
What is the histologic pattern in Lewy body dementia?
Alpha synuclein defect
“autoimmune inflammation and demyelination”
Multiple sclerosis
HLA type assoicated with multiple sclerosis?
HLA- DR2
What is the classic triad of MS?
SIN
Scanning speech
Intention tremor/ Incontinence
Nystagmus
“multiple white matter lesions separated in space and time
multiple sclerosis
“inflammation and demyelination of peripheral nerves and motor fibers–> ascending paralysis”
Guillain Barre syndrome
What causes guillain barre after an infection?
Molecular mimicry, inocultation and stress
“multifocal periventricular inflammation and demyelination after infection or certain vaccinations”
Acute disseminated encephalomyelitis
AD inherited motor and sensory neuropathy due to defect production of myelin sheath or peripheral nerves”
Charcot- Marie-Tooth
“AR inherited lysosomal storage disease due to deficient of galactocerebrosidease”
Krabbe disease
What builds up in Krabbe disease?
Galactocerebroside–> destroys myelin
“AR inherited lysosomal storage disease due to defect in arylsulfatase A”
Metachromatic leukodystrophy
What builds up in metachromatic eukodystrophy?
sulfatides–> destruction of myelin sheath
“demyelination of CNS due to destruction of oligodendrocytes caused by JC virus”
PML
Most common location of partial (focal) seizure?
Medial temporal lobe
Difference between simple partial and complex partial seizures?
Simple–> consciousness intact
Complex–> consciousness impaired
Seizure characterized with quick repetitive jerks?
Myoclonic
“excruciating periorbital pain with lacrimation and rhinorrhea”
Cluster headaches
“pulsating pain with nausea, photophobia or phonophobia, due to irritation of CN V, meninges a=or blood vessel”
Migraine
What causes peripheral vertigo?
inner ear etiology
What causes central vertigo?
cerebellar or brain stem lesion
Which type of vertigo is associated with IMMEDIATE nystagmus is any direction?
Central vertigo
Which type of vertigo is associated with delayed nystagmus is any direction?
Perpheral vertigo
“Cafe-ai-lait spots, lisch nodules/ pigmented hamartomas, cutaenous neurofibromas, optic gliomas, pheochromocytomas”
Neurofibromatosis type I
Gene mutated in Neurofibromatosis type I? What chromosome is it located on?
NF1 gene–> tumor suppressor (negative regulatory of RAS
Chromosome 17
“hemangioblastom in retina, brain stem, cerebellum, spin, angiomatosis, bilateral renal cell carcinoma, pheochromocytoma”
von Hippel- Lindau disease
“HAMARTOMAS–> Hamartomas in the skin/ CNS, Angiofibromas, Mitral Regurgitation, Ash-leaf spots, cardiac Rhabdo, mental retardation, renal angiomyolipoma, seizures, shagreen patches”
Tuberous sclerosis
HAMARTOMAS
“port wine stain on face, ipsilateral leptomeningial angioma, seizures, intellectual disability, glaucoma, GNAQ gene, epilepsy”
Srurge- Weber Syndrome
Malignant brain tumor found in cerebral hemispheres?
Glioblastoma multiforme
What is the histological finding of glioblastoma multiforme?
“pseudopalisaiding” pleomorphic tumor cells–> border central areas of necrosis and hemorrhage
What is the malignant cell type of glioblastoma multiforme?
Astrocytes (GFAP +)
What is the malignant cell type of glioblastoma multiforme?
Astrocytes (GFAP +)
Where do meningiomas occur?
in convexities of hemisphers (near surfaces of brain) and parasagittal region
What is the histology of meningiomas?
Whorled pattern of spindle cells, psammoma bodies,
What is the malignant cell type of meningiomas?
arachnoid cells
Where are hemangioblastomas usually found?
cerebellum
What disease are retinal hemangioblastomas associated with?
vHL disease
What can hemangioblastomas secrete?
Erythropoietin–> secondary polycythemia
What is the histology of hemangioblastomas?
closely arranged thin walled capillaries with minimal intervening parenchyma
Where are schwannomas typically dound?
cerebellopontine angle
What is the cell marker for schwannoma?
S-100 +
What is a bilateral vestibular schwannoma associated with?
NF2
What is a calcified tumor of white matter?
oligodendroglioma
What are the histological findings with oligodendroglioma?
“fried egg” cells with a “chicken wire” capillary pattern
What are the 4 childhood tumors?
1- pilocytic astrocytoma
2- Medulloblastoma
3- ependymoma
4- craniopharygioma
What is the cell type of pilocytic astrocytoma? Is it benign or malignant?
Benign
Astrocytes
Where are pilocytic astrocytomas usually located?
posterior fossa (cerebellum)
Cell marker for pilocytic astrocytoma?
GRAP
What is the histologic findings of pilocytic astrocytoma?
Rosenthal fibers (eosinophilic, corkscrew fibers”
Where are medulloblastomas located?
cerebellum
What are the malignant cells in medulloblastoma?
Primitive neuroectodermal tumor
What is the histological finding of medulloblastoma?
Homer- Wright rosettes
How does medulloblastoma spread?
CSF….it is highly malignant and caries a poor prognosis
Where are ependymomas commonly found?
4th ventricle
Where are craniopharyngiomas located?
Near pituitary
What are craniopharyngiomas made of?
Epithelial remnants of rathke ouch
What symptoms is associated with a uncal herniation?
Compression of ipsilateral CN III–> down and out gaze
Compresses ipsilateral PCA–> contralateral homonymous hemioanopia
What symptoms is associated with a uncal herniation?
Compression of ipsilateral CN III–> down and out gaze
Compresses ipsilateral PCA–> contralateral homonymous hemioanopia