It's not a tumah
An epidural hematoma is most often caused by a rupture in this artery
What is the middle meningeal artery?
Subdural hematoma: Tearing of bridging veins
Epidural -> Biconvex/lentiform shape
Subdural -> Crescent shape
Slide 115
The fundamental abnormality of Alzheimer's is the accumulation of these two proteins
What are αβ and tau?
Slide 6
These are the 3 primary headache types
What are migraine, tension-type, and cluster?
This symptom, classified by false perceptions of auditory and visual stimuli, is a early-stage key factor in identifying Lewy body dementia over Alzheimer's and Parkinson's
What are hallucinations?
Slide 22
This is the principal cerebellar cell involved in the degeneration seen in Spinocerebellar ataxias
What are Purkinje cells?
Slide 11
This will accumulate in a patient with Niemann-Pick disease
What is sphingomyelin?
Things to remember:
- Ashkenazi jews, autosomal recessive, Chr 11p15.4, maternal chromosome
- Types A, B, and C; A is the most severe death by 3 years; B has NO CNS involvement, just organomegaly; C is the most common, defect in NONenzymatic lipid transport (NPC1 and 2), leads to progressive neurological damage
- Massive splenomegaly and 33-50% cherry red spot on macula
Slide 128
A combination of these two secretases cleaving APP leads to the formation of αβ peptides accumulating
What are β and γ secretase?
α and γ secretase together are non-amyloidogenic
Slide 9
Sumatriptan works by acting as an agonist on receptors activated by this neurotransmitter
What is serotonin?
Specifically, 5-HT1B/1D receptors
Used for moderate to severe migraines and subcutaneously for acute treatment of cluster headaches (remember that high-flow oxygen is FIRST)
The C9orf72 from of familial FTLD-TDP is associated with this other neurodegenerative disease
What is ALS?
Slide 9
This foot deformity is seen in Friedreich's ataxia
What is Pes cavus?
Loss of axons in the posterior columns, corticospinal tract, and spinocerebellar tract
GAA repeat expansion on chromosome 9
Slide 4 chart on right side and slide 17
This malignant embryonal tumor seen in children has a propensity to metastasize though the CSF to the cauda equina
What is a medulloblastoma?
Groups:
- WNT -> older kids; anterior 4th ventricle or middle cerebellar peduncle; good prognosis
- SHH -> infants to young adults; if also TP53 mutation no bueno
Almost exclusively in the cerebellum:
- Kids -> midline; blocks CSF flow
- Adults -> usually lateral
Homer-wright rosettes; desmoplastic/nodular; large cell/anaplastic (cell wrapping)
Exquisitely radiosensitive
Slide 45
This ApoE allele greatly increases the risk of developing Alzheimer's
What is ε4?
On chromosome 19
Slide 20
In order to diagnose a migraine, at least 5 attacks need to have a least 1 of these associated symptoms during the attack
What are nausea and/or vomiting OR both photophobia and phonophobia?
In multiple system atrophy, cytoplasmic inclusion of this protein form in oligodendrocytes
What is alpha-synuclein?
Same protein seen in Lewy bodies
Slides 25-27
The HTT gene for the Huntingtin protein is located on this chromosome
What is chromosome 4?
CAG repeats
Slide 5
Multiple of these radiation-induced tumors are linked to a deletion of the NF2 gene
What are meningiomas?
- Doesn't infiltrate brain, but will penetrate bone
- Multiple meningiomas ± 8th nerve schwannoma ± glial tumors = NF2 loss
- 50-60% of sporadic meningiomas also NF2 loss
- TERT & CDKN2A seen in higher grade meningiomas
Slide 59
A mutation affecting these two genes results in an increase in γ-secretase
What are PS1 and PS2?
Inefficient cleaving -> more αβ42 than αβ40
Slide 20
Mutations in these 2 ion channels are seen in familial hemiplegic migraines
Bonus 100 points if you can name the third mutated thing that is seen in familial hemiplegic migraines
What are calcium (CACNA1A) and sodium (SCN1A) channels?
Bonus: sodium-potassium ATPase (ATP1A2)
Autosomal dominant
Patients with Progressive Supranuclear Palsy will have difficulty with this specific voluntary movement
What is downward eye movement?
Slide 24
20 percent of familial ALS is associated with a mutation of this protein
Bonus: Which chromosome has the gene that encodes this protein
What is copper-zinc superoxide dismutase (SOD1)?
Bonus: Chromosome 21
Bunina bodies
Slide 24
A loss in NF1 predisposes patients for pilocytic astrocytomas at this location
What is the optic nerve/tract?
Most common location is cerebellum, however when NF1 is lost -> optic nerve
BRAF is another gene that leads to pilocytic astrocytomas
Well circumscribed, often cystic with a mural nodule -> resection is only treatment
Slide 15
These are the first and second line treatments used for Alzheimer's
What are acetylcholinesterase inhibitors and NMDAR antagonists?
Slide 27
In chronic tension-type headaches, neuroimaging has shown alterations in the periaqueductal grey matter as well as this other pain-processing region
What is the anterior cingulate cortex?
Dysfunction in the posterior hypothalamus in cluster headaches
Alien hand syndrome is a key symptom in this atypical parkinsonian syndrome
What is Corticobasal Degeneration (CBD)?
Slide 23
Werdnig-Hoffmann disease and Kugelberg-Welander disease results from a deletion of this gene
What is SMN1?
Chromosome 5q
Slide 32 and 33