Diseases of the Nervous System

Some random points I wanted to clarify, help out with for your studying for the final are below. Comment on this page with additional questions, or continue e-mailing me (though, if you comment below, other students may be able to answer your questions faster than I get to them!)

SCI:
The spinal cord pathways (corticobulbar, etc., etc.) will be on the final. I had not stressed their importance in the review session because that was the one lecture I missed. Please study the spinal cord pathways, as this information should be on the final.
NOGO is inhibitory to axon regeneration.
IN-5 is a experimentally-made antibody that inhibits NOGO signaling .
NOGO mutant mice lacking NOGO function had a smaller phenotype than researchers were expecting.
On the Eph4a connection to CPGs
The old standby Wikipedia comes to our rescue again for the mTOR pathway

Chanelopathies/Epilepsy:
Kindling is the experimental induction of seizure: I was mistaken in telling some of you that it was the start of a natural seizure.
Regarding the tottering mouse and KCNA1:this paper could help your studying.

Myelination Disorders:
Know the sphingolipid metabolic pathways (as well as why certain steps are important, or how they go wrong in the disease state(s)) mentioned in several of the slides.
YARS is the tyrosyl-tRNA synthetase gene (“Y” is the abbreviation for “tyrosine”)
GARS is the glycyl-tRNA synthetase gene (“G” is the abbreviation for “glycine”)
CMT1 v. CMT2?
Just for fun, here are all the CMT variants on one nice list!
You should be able to compare and contrast the various myelination diseases: Dr. Goulding went over enough information on each to do so.

Prions:
As clarified on one slide, PrPc=Prpsen, and PrPsc=PrPres.

Lissencephaly:
For all things Miller Dieker, OMIM is your best bet.

Down Syndrome:
DYRK1A phosphorylates NFAT. DSCR1 dephosphorylates NFAT. The active form of NFAT is its non-phosphorylated form, which is able to translocate into the nucleus. Both DYRK1A and DSCR1 are increased (trisomic, etc.) in DS individuals, though as stressed in the lecture, there are complex interrelations in dosages of transcription factors (hence the elevation of both of these genes does NOT cancel each other out).

Williams Syndrome:
LIM kinase is one of the genes deleted in Williams Syndrome. Therefore, targets of this kinase (kinases phosphorylate things) in Williams Syndrome will be generally less phosphorylated. If some of you have good notes on this (esp. RE: conflin/confilin), could you post below and fill in the gaps?
There are several GTF genes that are in the Williams Syndrome deleted region.