I lobe you
It's a no-brainer!
Let's Brainstorm
Brain Freeze
you're gettin on my (cranial) nerves
100
this type of response can be seen in all NMJ disorders upon low frequency repetitive nerve stimulation
What is decrement of response?
100
this is one of the main clinical distinctions between LEMS and MG
What are autonomic symptoms? (LEMS affects all Ach equally and causes autonomic symptoms where MG does not)
100
the defect for this disease is located on chromosome 17
What is NF1?
100
premature again is associated with this neurocutaneous disorder
What is ataxia telangiectasia?
100
these are the 3 major clinical features assocaited with ataxia telanciectasis
What is progressive ataxia, choreoathetosis, and oculocutaneous telangiectasias?
200
MG, a postsynaptic NMJ disorder is often associated with this other finding
What is a thymoma?
200
this drug, used to treat LEMS, increased duration of AP in nerve terminal to allow calcium influx
What is 3,4 diaminopyridine?
200
these are five of the common clinical findings associated with NF1
What are cafe-au-lait spots, cutaneous neurofibromas, lisch nodules, axillary/skin fold freckling, and optic glioma?
200
port-wine stain, ipsilater cortical/leptomeningeal angiomatosis, +/- ipsilateral glaucoma
What is Sturge-Weber syndrome?
200
The mutation in the NF2 gene is located on this chromosome
What is chromosome 22?
300
40-50% of individuals with MG who test negative for AchR antibodies will have these other antibodies
What are MUSK antibodies?
300
this is the mechanism of how botulism causes descending flaccid paralysis
botulin toxin cleaves SNARE proteins leading to impaired docking of vesicles and reduced Ach release
300
95% of patients with tuberous sclerosis have this finding
BONUS: why?
What is epilepsy?
BONUS: due to cortical tubers
300
this is the main clinical feature of NF 2
What are bilateral vestibular schwannomas?
300
this is the inheritance pattern of ataxia telangiectasia
BONUS: On what chromosome is the mutated gene on?
What is AR?
Bonus: Chr 11
400
this is the #1 treatment for symptomatic MG
BONUS: What is the mechanism?
What is pyridostigmine?
MOA = increasing availability of Ach in synaptic cleft
400
LEMS is often seen as a paraneoplastic syndrome. These are the cancer's that it is most often associated with
What is lung and breast cancer?
400
The VHL gene is located on this chromosome
What is chromosome 3?
400
This is the main clinical feature of VHL
BONUS: where do they typically show up?
What are hemangioblastomas?
Bonus: cerebellum > SSC > brainstem > kidney > retina
400
CT of this disorder may show "tram-tracking" of calcified cortex
What is Sturge-Weber syndrome?
500
serologic testing for LEMS will show these antibodies
What are anti VGCC antibodies?
500
this is the mildest form of MG
What is ocular MG?
500
Sturge-Weber is always sporadic in its occurence and is due to a mutation in this gene on chromosome 9
BONUS: what disease have we talked about that also has a mutation on chromosome 9?
What is the GNAQ gene?
500
this finding is associated with what neurocutaneous disorder-- what is their name?
What is tuberous sclerosis?
ash leaf spots
500
tuberous sclerosis has known genetic components with mutations on TSC1 and TSC2 genes located on these chromosomes
What are chromosome 9 and 16?