Ch 17 Pathoma CNS Pathology Flashcards
Neural tube defects arise from ___ of the neural tube. The ___ invaginates early in gestation to form the neural tube, which runs along the ___ axis of the embryo. The wall of the tube forms the ___, the hollow lumen forms the ___, and the neural crest forms the ___.
incomplete closure; neural plate; cranial-caudal; CNS tissue; ventricles and spinal cord canal; peripheral nervous system
Neural tube defects are associated with low ___ levels. When with regards to conception? A neural tube defect can be detected during prenatal care by elevated ___ levels in the __ and ___.
folate; prior; AFP; amniotic fluid; maternal blood
____ is the absence of the skull and brain (disruption of the cranial end of the neural tube). It leads to a __-like appearance of the fetus.
Anencephaly; frog-like
Anencephaly is the absence of __ and __. It results in maternal ____, since fetal ___ of ___ is impaired
skull; brain; polyhydramnios; swallowing; amniotic fluid (fetus can’t swallow because no brain for swallow reflex)
Spina bifida is failure of the ____ to close, resulting in a vertebral defect (disruption of the caudal end of the neural tube). It presents with ___ protrusion of the underlying tissue through the vertebral defect. Name the 2 main types
posterior vertebral arch; cystic; meningocele (protrusion of the meninges); meningomyelocele (protrusion of the meninges and spinal cord)
Spina bifida occulta presents as a ___ or ___ overlying the vertebral defect
dimple; patch of hair
Name the neural tube defect associated with disruption in cranial end of the neural tube and caudal end.
anencephaly; spina bifida
Cerebral aqueduct stenosis is congenital/acquired stenosis of the channel that drains CSF from the ___ into the ___. This leads to accumulation of CSF in the ventricular space = ____. It presents with ___.
congenital; 3rd ventricle; 4th ventricle; hydrocephalus; enlarging head circumference (due to dilation of ventricles, cranial suture lines are not fused)
What is the most common cause of hydrocephalus in newborns?
Cerebral aqueduct stenosis
CSF is produced by the ___, which lines the ___. It flows from the lateral ventricles into the 3rd ventricle via the _____. Flows from the 3rd into the 4th via the ____. Flows from the 4th into the subarachnoid space via the ___.
choroid plexus; ventricles; interventricular foramen of Monro; cerebral aqueduct (sylvius); foramina of Magendie and Luschka
Dandy-Walker malformation is a congenital failure of the ___ to develop. It presents as a massively dilated ____, with an absent ___, often accompanied by ___.
cerebellar vermis (which separates the 2 sides of the cerebellum); 4th ventricle; cerebellum; hydrocephalus
Arnold-Chiari malformation (type 2) is a congenital downward displacement of ___ and __ through the ___. Can cause obstruction of ___ resulting in ____. It is often associated with ____.
cerebellar vermis; tonsils; foramen magnum; CSF flow; hydrocephalus; meningomyelocele
Which disease is causes a downward displacement of the cerebellar vermis and tonsils and which disease is a failure of the vermis to develop? (both are congenital)
Arnold-chiari malformation (type 2); Dandy-Walker malformation
____ is cystic degeneration of the spinal cord. It usually arises with ___ or in associated with ____. Usually occurs at spinal cord level ___.
Syringomyelia; trauma; type 1 Arnold-Chiari malformation; C8-T1 (upper extremities)
Syringomyelia presents as sensory loss of ___, with sparing of ___. It has a __-like distribution. It is due to involvement of the ____ of the ___ tract with sparing of the ___.
pain and temperature; fine touch and position sense; cape; anterior white commisure; spinothalamic (anterolateral); dorsal column
(syringomyelia is cystic degeneration of the spinal cord)
In addition to syringomyelia affecting the spinothalamic tract, it can involve the ___ causing upper/lower motor neuron damage (name 5 symptoms), and the ___ of the ____ tract causing Horner syndrome (name 3 symptoms)
anterior horn; lower; muscle atrophy, weakness, fasciculations, hypotonia, hyporeflexia; lateral horn; hypothalamospinal tract; ptosis; miosis; anhidrosis
(occurs when syrinx expands)
Poliomyelitis is damage to the ___ due to __ infection. It presents with ___ signs (name 5) and a positive/negative Babinski’s sign.
anterior motor horn; poliovirus; lower motor neuron; 1) flaccid paralysis with muscle atrophy; 2) fasciculations; 3) weakness; 4) hypotonia; 5) hyporeflexia
____ is an inherited degeneration of the anterior motor horn. It is autosomal/x-linked dominant/recessive. Presents as a “___” and death occurs within a few weeks/months/years after birth.
Werdnig-Hoffman disease; autosomal recessive; floppy baby; years
Amytrophic lateral sclerosis is a ___ disorder of upper/lower motor neurons of the ___ tract.
degenerative; upper AND lower; corticospinal tract
In ALS, anterior motor horn degeneration leads to upper/lower motor neuron signs (name 5). Lateral corticospinal tract degeneration leads to upper/lower motor neuron signs (name 4)
lower; 1) flaccid paralysis with muscle atrophy; 2) fasciculations; 3) weakness; 4) hypotonia; 5) hyporeflexia; upper; 1) spastic paralysis; 2) hyperreflexia; 3) hypertonia; 4) positive Babinski’s sign
___ and ___ of hands is an early sign of ALS. What distinguishes it from syringomyelia? Most cases are inherited/sporadic arising in ___.
Atrophy; weakness; lack of sensory impairment (syringomyelia has loss of pain and temp); sporadic; middle age adults
While ALS mostly arises sporadically, ___ mutation is present in some familial cases, which leads to ___ in neurons.
zinc-copper superoxide dismutase (SOD1); free radical injury in neurons
____ is a degenerative disorder of the cerebellum (leading to ___) and the spinal cord. It presents when in someone’s life? Patients are wheelchair bound within a few weeks/months/years after diagnosis. It is associated with ____.
Friedreich ataxia; ataxia; early childhood; years; hypertrophic cardiomyopathy
In Friedreich ataxia there is degeneration of multiple spinal cord tracts leading to these 3 symptoms, and degeneration of cerebellum leading to ___.
loss of vibratory sense and proprioception; muscle weakness in lower extremities; loss of deep tendon reflexes; ataxia
Friedreich ataxia is a autosomal/x-linked dominant/recessive, and due to an expansion of an unstable trinucleotide repeat (___) in the __ gene. This gene is essential for ____, and its loss results in __ buildup with ___ damage (via the __ rxn).
autosomal recessive; GAA; frataxin; mitochondrial iron regulation; iron; free radical; Fenton
Which spinal cord lesion is associated with hypertrophic cardiomyopathy?
Friedreich ataxia
Meningitis is inflammation of the ___, made up of the __ and ___. Name the 3rd meninge. Diagnosis of meningitis is made by ___ and subsequent ___
leptomeninges; pia; arachnoid; dura (leptomeninges means light; dura for durable); lumbar puncture and sampling the CSF
Meningitis is commonly due to a ___ agent. Name the 3 most common in neonates, the most common in children and teenagers, the most common in adults and elderly, and the most common in non-vaccinated infants
infectious; 1) group B strep, E coli, listeria monocytogenes; 2) N meningitidis (enters through nasopharynx then into blood then leptomeninges); 3) strep pneumo; 4) H influenza
Name the most common viral cause for meningitis in children. Name the most common cause of meningitis seen in immunocompromised
coxsackie virus (fecal-oral transmission); fungi
Meningitis presents with this classic triad. It can also present with these 3 other symptoms
headache, nuchal rigidity (neck stiffness), fever; photophobia (especially viral); vomiting; altered mental status
Lumbar puncture is done by placing needle between these 2 vertebrae (level of the ___). the spinal cord ends at __, but subarachnoid space and cauda equine continue to ___
L4 and L5; iliac crest; L2; S2
During an LP, the needle must pass these 5 layers. It will not pierce the ___.
skin, ligaments, epidural space, dura, and arachnoid; pia
Describe the type of cell present and the relative level of CSF glucose in bacterial, viral, and fungal meningitis. Normal CSF glucose is ___ of the serum glucose
1) neutrophils w/decreased CSF glucose (bacteria consume it); 2) lymphocytes with normal glucose; 3) lymphocytes w/decreased glucose (fungi consume it); 2/3
Complications of meningitis are usually seen with viral/bacterial/fungal meningitis. Name 2 and why it occurs
bacterial; death (herniation secondary to cerebral edema); hydrocephalus, hearing loss, seizures (2ndary to fibrosis - damages nerves as they exit, scars surface of brain)
Cerebrovascular disease is a ___ deficit due to cerebrovascular ___. It is a major cause of morbidity and mortality. It can be due to ___ (85% of cases) or ___ (15% of cases).
neurologic; compromise; ischemia; hemorrhage
Neurons are dependent on serum ___ as an essential energy source and are particularly susceptible to ___ (undergo ___ within 3-5 mins)
glucose; ischemia; necrosis
Name 4 causes of global cerebral ischemia and an example
1) low perfusion (e.g. atherosclerosis); 2) acute decrease in blood flow (e.g. cardiogenic shock); 3) chronic hypoxia (e.g. anemia); 4) repeated episodes of hypoglycemia (e.g. insulinoma)
Clinical features of global cerebral ischemia are based on __ and __ of the insult. Can be mild, moderate or severe. Mild results in transient ___ with/without recovery. Severe results in ___, and survival (rare) leads to a __.
duration; magnitude; confusion; with (prompt); diffuse necrosis; vegetative state
Moderate global ischemia leads to infarcts in ____ and damage to highly vulnerable regions such as these 3
watershed areas; 1) pyramidal neurons of the cerebral cortex (layers 3, 5, and 6 - leads to laminar necrosis); 2) pyramidal neurons of the hippocampus (temporal lobe - impt in long term memory); 3) purkinje layer of the cerebellum (integrates sensory perception w/motor control)
Ischemic stroke is global/regional ischemia to the brain that results in global/focal neurologic deficits lasting __ hours. Transient ischemic attack (TIA) lasts __ hours.
regional; focal; greater than 24; less than 24
Name 3 subtypes of ischemic strokes
thrombotic; embolic; lacunar
Thrombotic stroke is due to ____. Embolic stroke is due to ___. Lacunar stroke occurs secondary to ___, a complication of ___.
rupture of an atherosclerotic plaque; thromboemboli; hyaline arteriolosclerosis; hypertension
Which subtype of ischemic stroke results in a pale infarct in the periphery of the cortex?
Thrombotic (if clot is lysed, a new one will form due to rupture of plaque)
Which subtype of ischemic stroke results in a hemorrhagic infarct at the periphery of the cortex?
Embolic (clot gets lysed quick, and then you get bleeding in peripheral cortex)
Atherosclerosis usually develops at __ points (name 1 example). Rupture of atherosclerotic plaque can cause a thrombotic stroke and lead to a __ infarct at the ___ of the cortex.
branch; bifurcation of internal carotid and middle cerebral in the circle of Willis); pale; periphery
The most common source of embolic stroke is the ___ (give an example). It usually involves the ___ artery. It results in a ___ infarct at the ___ of the cortex
left side of the heart; atrial fibrillation; middle cerebral; hemorrhagic; periphery
Lacunar strokes most commonly involves ___ vessels, resulting in ___ areas of infarction. Involvement of the ___ leads to a pure motor stroke. Involvement of the ___ leads to a pure sensory stroke.
lenticulostriate (branch of the MCAs); small cystic; internal capsule; thalamus
Ischemic stroke results in __ necrosis. 12 hours after infarction you can see this microscopic change. What do you see in 24 hours, 1-3 days, 4-7 days, and 2-3 weeks
liquefactive; red neurons; 24: necrosis; 1-3: infiltration by neutrophils; 4-7: microglial cells (macrophages); 2-3wks: gliosis (made up of astrocytes)
In liquefactive necrosis, the result is the formation of a ____ space surrounded by ___.
fluid-filled cystic; gliosis
aka gliotic cyst
After ischemic stroke, when does gliosis occur? Red neurons? Microglial cells? Necrosis? Infiltration by neutrophils?
Gliosis: 2-3 wks; Red neurons: 12hrs; Microglial (aka macrophages): 4-7 days; Necrosis: 24hrs; Neutrophils: 1-3 days
Intracerebral hemorrhage (hemorrhagic cerebrovascular disease) causing bleeding into ___. Classically due to rupture of ___ of the ___ vessels. ___ is the most common site.
brain parenchyma; Charcot-Bouchard microanuerysms; lenticulostriate vessels; basal ganglia
Rupture of Charcot Bouchard microaneurysms is seen in ____. It is a complication of ___, and tx of it reduces the incidence by half.
intracerebral hemorrhage; hypertension
Intracerebral hemorrhage presents with these 4 symptoms
severe headache, nausea, vomiting, and eventual coma
Subarachnoid hemorrhage is bleeding into the ____. It presents as a sudden ___ with ___. LP shows ____ (yellow hue due to ___).
subarachnoid space; headache (worse of life); nuchal rigidity; xanthochromia; bilirubin
Subarachnoid hemorrhage is most frequently (85%) due to rupture of a ____. Name 2 other causes
berry aneurysm; AV malformation; anticoagulated state
Berry aneurysms are thick/thin-walled saccular outpouchings that lack a ___ layer, increasing the risk for ___. Most frequently located in the ___ at branch points the ___ artery. It is associated with these 2 diseases.
thin; media; rupture; anterior circle of Willis; anterior communicating artery; Marfan syndrome; autosomal dominant polycystic kidney disease (ADPKD)
(berry aneurysms cause subarachnoid hemorrhage)
Epidural hematoma is a collection of blood between the __ and ___. It is classically due to ___ of the ___ bone with rupture of the ___ artery.
dura; skull; fracture; temporal; middle meningeal
bleeding separates the dura from the skull
What does an epidural hematoma look like on CT? Subdural hematoma?
lens shape; crescent shape
In which type of hematoma is there often a lucid interval which precedes neurologic signs? (aka ____ syndrome)
epidural hematoma; talk and die
What is a lethal complication of both subdural and epidural hematomas?
herniation
Subdural hematoma is a collection of blood underneath the ___. Blood covers the ___. It is due to a tearing of ___ that lie btwn the dura and arachnoid. These usually occur due to ___, and present with progressive ___.
dura; surface of the brain; bridging veins; trauma; neurologic signs
There is an increased rate of subdural hematomas in the ____ due to __-related cerebral atrophy, which stretches the veins
elderly; age
Name 3 types of brain herniation (discussed in pathoma)
Tonsillar (cerebellar tonsils), subfalcine (cingulate gyrus under the falx cerebri), uncal (uncus under the tentorium cerebelli)
Herniation is displacement of brain tissue due to ___ or ___.
mass effect; increased intracranial pressure
Tonsillar herniation involves displacement of the ___ into the ___. It causes compression of the __ and can lead to ___.
cerebellar tonsils; foramen magnum; brain stem; cardiopulmonary arrest
Subfalcine herniation involves displacement of the ___ under the ___. Compression of the ___ leads to infarction
cingulate gyrus; falx cerebri; anterior cerebral artery
Uncal herniation involves displacement of the ___ under the ___. Can lead to these 3 compressions and outcomes.
temporal lobe uncus; tentorium cerebelli; 1) CNIII leads to eye moving down and out and a dilated pupil; 2) posterior cerebral artery leads to infarction of occipital lobe (contralateral homonymous hemianopsia); 3) rupture of the paramedian artery leads to Duret (brainstem) hemorrhage
Uncal herniation can cause rupture of the paramedian artery leading to ___ (brainstem) hemorrhage
Duret
Myelin insulates ___, improving the __ and __ of conduction. ___ myelinate the CNS, and ___ myelinate the PNS
axons; speed; efficiency; oligodendrocytes; Schwann cells
Demyelinating disorders are characterized by destruction of __ or ___. ___ are generally preserved
myelin; oligodendrocytes; axons
_____ are inherited mutations in enzymes necessary for production or maintenance of myelin
Leukodystrophies
myelin is white - which is why white matter is white
Metachromatic leukodystrophy is due to a deficiency of ____. Name the pattern of inheritance. ___ cannot be degraded and accumulate in the lysosomes of oligodendrocytes
arylsulfatase; autosomal recessive; sulfatides
lysosomal storage disease
Krabbe disease is due to a deficiency of ___. Name the pattern of inheritance. ____ accumulates in macrophages.
galactocerebrosidase; autosomal recessive; galactoberebroside; (build-up of unmetabolized lipids affects the growth of the nerve’s protective myelin sheath)
Name 3 leukodystrophies and their patterns of inheritance
Krabbe disease, metachromatic leukodystrophy, adrenoleukodystrophy
(first two are AR, and last one is x-linked
Adrenoleukodystrophy is due to impaired addition of ___ to long-chain fatty acids. Name the pattern of inheritance. Accumulation of ____ damages __ and __.
coenzyme A; x-linked; fatty acids; adrenal glands; white matter of the brain
Multiple sclerosis is ___ destruction of CNS __ and ___. It is more commonly seen in women/men. It is associated with HLA-__ and is more commonly seen in regions close to/away from the equator.
autoimmune; myelin; oligodendrocytes; women; DR2; away from
What is the most common leukodystrophy
Metachromatic leukodystrophy
What is the most common chronic CNS disease of young adults (20-30 yrs)?
Multiple sclerosis
MS presents with ___ neurologic deficits with periods of ___ (multiple lesions in time and space).
relapsing; remission
Name 6 clinical features of multiple sclerosis
1) blurred vision in one eye (optic nerve); 2) vertigo and scanning speech mimicking EtOH intox (brainstem); 3) internuclear ophthalmoplegia (MLF); 4) hemiparesis or unilateral loss of sensation (cerebral white matter, usually periventricular); 5) lower extremity loss of sensation or weakness (spinal cord); 6) bowel, bladder, and sexual dysfunction (ANS)
For the following clinical feature of MS, name the location of the lesion: 1) blurred vision in one eye; 2) vertigo/scanning speech; 3) internuclear ophthalmoplegia; 4) hemiparesis; 5) lower extremity weakness/loss of sensation; 6) bowel, bladder, and sexual dysfunction
1) optic nerve; 2) brainstem; 3) medial longitudinal fasciculus; 4) cerebral white matter, usually periventricular; 5) spinal cord; 6) autonomic nervous system
MS diagnosis is made by __ and ___. Gross examination shows ___ in the white matter. Treatment of acute attacks includes ___. Long term tx with ___ slows progression of disease
MRI; lumbar puncture; gray-appearing plaques; high-dose steroids; interferon beta
An MRI of an MS brain reveals ___ (areas of white matter demyelination). LP shows an increase in these 3 things.
lymphocytes; immunoglobulins with oligoclonal IgG bands on high resolution electrophoresis; myelin basic protein (since myelin is getting destroyed)
In which disease do you see oligoclonal bands on high resolution electrophoresis of CSF?
MS
Subacute sclerosing panencephalitis is a progressive, debilitating encephalitis leading to ___. It is due to a rapidly/slowly progressing, persistent brain infxn by ___.
death; measles virus
In subacute sclerosing panencephalitis, ___ infxn occurs in infancy, and neurologic signs arise days/weeks/months/years later (during ___). Characterized by ___ within neurons (gray matter) and ___ (white matter).
measles virus; years; childhood; viral inclusions; oligodendrocytes
Progressive multifocal leukoencephalopathy is due to ___ infection of ___ (white/gray matter). ___ leads to reactivation of the latent virus. Presents with rapidly/slowly progressive neurologic signs (visual loss, weakness, dementia) leading to ___.
JC virus; oligodendrocytes; immunosuppression; rapidly; death
Which demyelinating disorder is due to measles and JC virus? Which one is rapidly progressive vs slowly
Subacute sclerosing panencephalitis: measles and slow progression
Progressive multifocal leukoencephalopathy: JC virus and rapid progression
Central pontine myelinolysis is focal demyelination of the ___. It is due to ____. It occurs in severely malnourished pts (e.g. ___ with liver disease).
pons; rapid IV correction of hyponatremia; alcoholics
Which demyelinating disorder classically presents as acute bilateral paralysis (aka ___ syndrome)?
central pontine myelinosis; locked in
Dementia and degenerative disorders are characterized by loss of ___ within the ___ matter. It is often due to accumulation of __ which damages __.
neurons; gray matter; proteins; neurons
Degeneration of ___ leads to dementia and degeneration of ___ and ___ leads to movement disorders
cortex; brainstem; basal ganglia
Alzheimer’s disease is a degenerative disease of ___. Diagnosis is made by ___ and ___ correlation. Presumptive diagnosis is made __ after excluding other causes. Confirmed by ___ at autopsy.
cortex; clinical; pathological; clinically; histology
What is the most common cause of dementia?
Alzheimer’s disease
Name 5 clinical features of Alzheimer’s disease and common cause of death
1) slow consent memory loss (begins w/short term, progresses to long term) and progressive disorientation; 2) loss of learned motor skills and language; 3) changes in behavior and personality; 4) pts become mute and bedridden (infxn is common cause of death); 5) focal near deficits are NOT seen in early disease
Most cases (95%) of alzheimer’s disease are sporadic/early onset and seen in ____. Risk increases with ___ (doubles every 5 years after age of ___). ___ allele of apolipoprotein E is associated with increased risk, and __ is associated decreased risk.
sporadic; elderly; age; 60; E4; E2
Early-onset AD is seen in these 2 cases
familial cases - associated with presenilin 1 and presenilin 2 mutations; down syndrome (occurs by 40 yrs of age - since amyloid precursor protein is on chromosome 21)
Name 4 morphological features of alzheimer’s disease
1) cerebral atrophy with narrowing of gyri, widening of sulci, and dilation of ventricles; 2) neuritic plaques; 3) neurofibrillary tangles; 4) loss of cholinergic neurons in the nucleus baseless of Meynert
Neuritic plaques, seen in AD, are an extracellular/intracellular core comprised of ___ with entangled neuritic processes. Amyloid from the plaques may also deposit around ___, increasing the risk of hemorrhage (cerebral amyloid ____)
extracellular; AB amyloid; vessels; angiopathy
AB amyloid is derived from ____, which is coded on chromosome __. It normally undergoes ___ cleavage, but when it undergoes __ cleavage it results in AB amyloid, which deposit in cortex and cause ___.
amyloid precursor protein (AAP); 21; alpha; beta; Alzheimer’s disease
Neurofibrillary tangles, seen in AD, are extracellular/intracellular aggregates of fibers composed of ____ tau protein. Tau is a ___-associated protein.
intracellular; hyperphosphorylated; microtubule
In AD, there can be loss of cholinergic neurons in the ____, which leads to a decrease in mental capacity and learning
nucleus basalis of Meynert
What is the 2nd most common cause of dementia?
Vascular dementia
Vascular dementia is a focal/multifocal infarction and injury due to these three things.
multifocal; hypertension, atherosclerosis, vasculitis
can be alleviated if you fix the vascular problem - consequence of moderate global ischemia
Pick disease is a degenerative disease of the __ and __ cortex, that spares the __ and __ lobes. Characterized by __ aggregates of __ protein (aka __) in neurons of the cortex. __ and __ symptoms arise early; and it eventually progresses to dementia
frontal; temporal; parietal; occipital; round; tau; Pick bodies; behavioral (b/c of frontal cortex); language (b/c of temporal cortex)
Parkinson disease is a degenerative loss of ___ neurons in the ___ of the basal ganglia. It is a common disorder related to ___, seen in __% of older adults. The etiology is ___. Historically rare cases were related to ___ exposure (a contaminant in illicit drugs)
dopaminergic; substantia nigra; aging; 2; unknown; MPTP
Normally, the ___ pathway of the basal ganglia uses ___ to initiate movement.
nigrostriatal; dopamine
Name 4 clinical features of Parkinson disease
TRAP - 1) Tremor (pill rolling tremor at rest that disapears with mvmt); 2) Rigidity (cogwheel rigidity in the extremities); 3) Akinesia/bradykinesia (slowing of voluntary mvmt; expressionless face); 4) Postural instability and shuffling gait
Describe the tremor seen in Parkinson disease. What is a common feature of late disease?
It is a pill rolling tremor at rest, that disappears with movement; dementia
Histology of a parkinson brain reveals these 2 things.
1) loss of pigmented neurons in the substantia nigra; 2) Lewy bodies (round eosinophilic inclusions of alpha-synuclein)
Early onset dementia in Parkinson is actually suggestive of ___ dementia, which is characterized by dementia, ___ and ___ features. Histology reveals cortical ___.
Lew body; hallucinations; parkinsonian; Lewy bodies
Huntington disease is degeneration of ___ neurons in the ___ of the basal ganglia. Describe pattern of inheritance. It presents with ___ that can progress to __ and __.
GABAergic; caudate (leads to loss of inhibition of cortex causing chorea); autosomal dominant; chorea (and athetosis, which is snake like slow involuntary mvmts of the fingers); dementia; depression
The huntingtin gene is located on chromosome __ and is characterized by trinucleotide repeats (__). Further expansion of repeats during ___ leads to ___ (subsequent generations will get it earlier than previous ones)
4; CAG; spermatogenesis; anticipation
The average age of presentation of Huntington disease is ___. ___ is common cause of death.
40; suicide
Normal pressure hydrocephalus results in increased ___ resulting in dilated ___. It can cause ___ in adults, and the etiology is usually ___.
CSF; ventricles; dementia; idiopathic
Normal pressure hydrocephalus presents with this triad. LP improves/worsens symptoms. Treatment is ____.
urinary incontinence, gait instability, and dementia (wet, wobbly, and wacky); improves; ventriculoperitoneal shunting
Spongiform encephalopathy is a degenerative disease due to ___. Disease arises when ___, which is normally expressed in the CNS neurons in a ___ configuration (__), is converted to a ___ conformation (__). This conversion can be ___, ___, or ___.
prion protein; prion protein; alpha helical; PrPC; beta-pleated; PrPSC; sporadic; inherited; transmitted
In spongiform encephalopathy, the pathologic protein is not ___ and it converts normal protein into the pathologic form, resulting in a ___. It causes damage to ___ and ___ and is characterized by ____.
degradable; vicious cycle; neurons; glial cells; intracellular vacuoles (spongy degeneration)
What is the most common form of spongiform encephalopathy? And how does it arise?
Creutzfeld-Jakob disease (CJD); usually sporadic; rarely can arise due to exposure to prion-infected human tissue (human GH or corneal transplant)
CJD presents as rapidly progressive ___ associated with __ and ___. Periodic ___ are seen on EEG. Results in death, usually less than 1 wk/month/year.
dementia; ataxia (cerebellar involvement); startle myoclonus (involuntary contraction of muscle w/minimal stimulus); sharp waves; year
Variant CJD (vCJD) is a special form of disease that is related to exposure to ____ (“___”).
bovine spongiform encephalopathy; mad cow
Familial fatal insomnia is an inherited form of ___ characterized by severe ___ and an exaggerated ___.
prion disease; insomnia; startle response
CNS tumors can be ___ or ___ (50% of each type). Metastatic tumors characteristically present as multiple/single, well/poorly circumscribed lesions at the _____. These 4 types are the most common sources.
metastatic; primary; multiple; well circumscribed; gray-white junctions (most highly vascularized); lung, breast, kidney and melanoma
Primary CNS tumors are classified according to ___ of origin. Name 5 types they can arise from. Primary malignant CNS tumors are locally ___, and often/sometimes/rarely metastasize
cell type; astrocytes, oligodendrocytes, ependymal cells, neurons/neuroectoderm, meningothelial cells; destructive; rarely
In adults, primary CNS tumors are usually located ____. Name the 3 most common adult CNS tumors. In children, primary CNS tumors are usually located ____. Name the 3 most common child CNS tumors
supratentorial; glioblastoma multiforme, meningioma, schwannoma
infratentorial; pilocytic astrocytoma, ependymoma, medulloblastoma
Glioblastoma multiforme (GBM) is a malignant/benign, high/low grade tumor of ____. It usually arises in the ____, and characteristically crosses the ___ (“__ lesion”). It has a good/poor prognosis
malignant; high; astrocytes; cerebral hemisphere; corpus callosum; butterfly; poor
GBM is characterized histologically by regions of ___ surrounded by ___ (___ is the term used to describe it) and ____ proliferation. Tumor cells are ___ positive.
necrosis; tumor cells; pseudopalisading; endothelial cell; GFAP (which is an intermediate filament found in glial cells)
What is the most common primary malignant CNS tumor in adults? What is the most common CNS tumor in children? What is the most common benign CNS tumor in adults? Which CNS tumor expresses estrogen receptor?
GBM; pilocytic astrocytoma; meningioma; meningioma
____ is a benign tumor of arachnoid cells. It is more commonly seen in women/men. It is common/rare in children. May present as ___. Tumor ___, but does not ___ the cortex. Imaging reveals a ___ attached to the dura. Histology shows a ___. ____ may be present.
Meningioma; women (tumor expresses estrogen receptors); seizures; compresses; invade; round mass; whorled pattern; psammoma bodies (calcified whorled cells)
Schwannoma is a malignant/benign tumor of Schwann cells. It involves ___ or ___ nerves. Within the cranium, most frequently involves ____ at the _____ angle (which presents as a loss of ___ and ___). Tumor cells are ___ positive. Bilateral tumors are seen in ____.
benign; cranial; spinal; cranial nerve 8; cerebellopontine; hearing; tinnitus; S-100; neurofibromatosis type 2
Oligodendroglioma is a malignant/benign tumor of oligodendrocytes. Imaging reveals a ___ tumor in the ___, usually involving the ___ lobe. May present with ____. ____ appearance of cells on biopsy.
malignant; calcified; white matter (makes sense since oligodendrocytes make the white matter); frontal; seizures; fried-egg
Pilocytic astrocytoma is a malignant/benign tumor of ___. It is the most common CNS tumor in adults/children. Usually arises in the ____. Imaging reveals a ___ lesion with a ____. Biopsy shows ____ and eosinophilic granular bodies. Tumor cells are ____ positive.
benign; astrocytes; children; cerebellum (below the tentorium since its a childhood cancer); cystic; mural nodule; Rosenthal fibers (thick eosinophilic processes of astrocytes); GFAP
Medulloblastoma is a malignant/benign tumor derived from the ___ cells of the ___ (neuroectoderm). Usually arises in adults/children. Histology reveals small ____ cells, and ___ may be present. It has a good/poor prognosis.
malignant; granular; cerebellum; children; round blue; Homer-Wright rosettes; poor
Medulloblastoma grows rapidly/slowly and spreads via ___. Metastasis to the cauda equina is termed ‘___’
rapidly; CSF; drop metastasis
Ependymoma is a malignant/benign tumor of ependymal cells, usually seen in adults/children. Most commonly arises in the ____, and may present with ___. ____ are a characteristic finding on biopsy.
malignant; children; 4th ventricle; hydrocephalus (grows out in to the ventricle causing hydrocephalus); Perivascular pseudorosettes (looks like brain made a ventricle with a lumen)
Craniopharyngioma is a malignant/benign tumor that arises from ___ remnants of ____. Presents as a supra/infra tentorial mass in a ___ or ____. It may compress the ___ leading to ____. ____ are commonly seen on imaging (since derived from tooth like tissue).
benign; epithelial; Rathke’s pouch (upward protrusion from floor of mouth that form anterior pituitary); supra (exception to child rule); child; young adult; optic chiasm; bilateral hemianopsia (think pituitary adenoma, unless a child); calcifications (tends to recur after resection)
Name 4 malignant primary CNS tumors. Name 4 benign primary CNS tumors
GBM, oligodendroglioma, medulloblastoma, ependymoma
Meningioma, schwannoma, pilocytic astrocytoma, craniopharyngioma
