Myelinating Disorders, Seizures and Neurocutaneous disorders Flashcards
What kind of people have increased risk of developing Alzheimer?
Down Syndrome
MCC dementia?
Alzheimer
APP presenilin-1, presenilin-2: risk of?
early onset (1,2 year old kids)
With ApoE4 is there increased or decreased risk?
Increased
What gross findings do you see in Alzheimer Dementia?
Widespread cortical atrophy. Narrowing of gyri and widening of sulci
Alzheimer amyloid can deposit where? causing what?
amyloid angiopathy=> intracranial hemorrhage
What is the problematic protein?
Αβ (amyloid-β)
With Alzheimer disease, you see a neurofibrillary tangle, what is made of?
intracellular, hyperphosphorylated tau protein=>insoluble cytoskeleton elements
Frontotemporal (pick’s disease) vs Alzheimer?
Frontotemporal-pick’s disease=> earlier onset (50-60)+personality changes
Alzheimer=> (60+)+memory changes
In pick’s disease you get pick’s bodies; what are they?
silver-staining spherical tau protein aggregates
you pick your spherical boogers
Early onset dementia and visual hallucinations
Lewy Body Dementia
“haLewycinations”
Rapidly progressive (weeks to months) dementia with myoclonus (“startle myoclonus”)?
CJD
In CJD, prion PrP C becomes? What is the consequence?
C=>SC
=>B-pleated sheet resistant to proteases
CJD prions have what EEG?
Spiked wave complex on EEG
2nd most common cause of dementia in elderly?
Multi-infarct (aka vascular) dementia
Autoimmune inflammation and demyelination of oligodendrocytes?
MS
Who does MS most commonly affect?
20-30 year old white woman who has eye symptoms
What is the SIN in MS?
Scanning speech
Intention tremor (also Incontinence and
Internuclear ophthalmoplegia=>Bilateral MLF)
Nystagmus
What Dx of MS?
Oligoclonal bands
MS is associated with?
HLA-DR2
two words in MS
MS symptoms are seen after taking a?
Hot Shower
With MS, how will patients eye react to light if the affected eye is the right?
Light on Right=>No change
Light On Left=>Both eyes constrict
destroys Schwann cells?
GBS
What do you see with GBS?
Increased CSF protein with normal cell count=>albuminocytologic dissociation
What eye problem can you get with GBS?
Increased protein may cause papilledema.
GBS is associated with? MOA?
Campylobacter jejuni, viral
Moleculary Mimicry
Demyelination of CNS due to destruction of oligodendrocytes associated with JC virus?
PML
Natalizumab and rituximab do what?
Increase risk of PML
X-linked genetic disorder with metabolism of very-long-chain fatty?
Adrenoleukodystrophy
Very long chain fatty acids are found in a defect of?
Peroxisomes
1st Step in Seizures, Then what do you do? Which ones lose consciousness?
Arms=>Both=>generalized=>Myoclonic vs Tonic clonic (Consciouss lost)
VTLL
One arm=>Focal=>Simple vs Complex (Consciousness)
CGPP
Sturge-Weber Syndrome
anomaly of neural crest derivatives
GNAQ gene
Port Wine Stain
HAMARTOMAS?
HAMARTOMAS: Hamartomas in CNS and skin; Angiofibromas C ; Mitral regurgitation; Ash-leaf spots D ; cardiac Rhabdomyoma; (Tuberous sclerosis); autosomal dOminant; Mental retardation (intellectual disability); renal Angiomyolipoma E ; Seizures, Shagreen patches.
Neurofibromatosis type I (von Recklinghausen disease)
Café-au-lait spots F , Lisch nodules (pigmented iris hamartomas G ), cutaneous neurofibromas H
What is wrong in NF 1?
Mutated NF1 tumor suppressor gene (neurofibromin, a negative regulator of RAS) on chromosome
