http://neurosurgery.stanford.edu/moyamoyameeting.html

Here it is...the syllabus for The First International Symposium on Moyamoya.  There are links on the right for each session of the meeting.
I hope this link works, otherwise just cut and paste into your browser.  WELL worth your time to watch!  Some of the presentations are a bit technical (well, for me anyway!  LOL).   
Michele

Whew!  I just finished watching all the presentations from the link!  It is divided into four separate areas.  Please take the time to watch these presentations...soooooo much information.  I am sure I will end up watching them several times and learning something new each time.  I just stumbled across the link to the video's as I was checking back often.  Pop some corn, get a tall glass of ice tea and prepare to be amazed..LOL!
MIchele

I just clicked on the link above.  Each part of the symposium is divided into time frames.  To the right of the morning session there is a link that says view video.  Just click the link and it should pop up.  You may have to download some Silverlight software to get it to work, but I didn't need to log in.  Hope it works for you!  Let me know.
Michele

I just watched this.  It was soo interesting.  Michele, I would like the info. please.  My grandma died of strokes and my older sister had a ruptured aneurysm a couple of years ago (She is doing fine they coiled it.)   I did mention this to some of the doctors but no one seemed interested at the time.  I also have a son, a niece and some great nieces that it would be really great to check.

Michele, Thanks for the info. I think I may participate in the study also. I am having genetic testing done on Adriana already for other reasons. I just met with genetics yesterday. I am going to email Dianna tonight. I wonder if they can work with the genetic team I already met with. If not I think what you described sounds easy enough. I am worried about having more children but do want more. Danielle

Your very welcome!  As I said, this takes so little effort on our individual parts and has the potential to benefit the entire MM community.  The more participants, the more statistically relevant the data will be and we will also each find out if we carry the gene mutation!  It's win/win/win!  I encourage everyone who actually has MM as well as their parents to participate in this research!  For me personally, the "kicker" was when Dianna mentioned Livedo.  I have had this for YEARS and didn't even know what it was!  I have since learned that:
Livedo reticularis is a disorder in which blood vessels are constricted, or narrowed. It results in mottled discoloring on large areas of the legs or arms (mine is the legs).  Livedo reticularis refers to a condition in which dilation of capillary blood vessels and stagnation of blood within these vessels causes mottled discolouration of the skin. It is described as being reticular (net-like) cyanotic (reddish blue discolouration) cutaneous discolouration surrounding pale central areas.  I have this condition in addition to the vascular birthmark I have mentioned before. 

Lets all do this and help each other on a journey towards a cure!  
God Bless You All!
Michele

Have you watched Dianna's presentation on the International Symposium website?  She shows a picture of Livedo, and in examining people with ACTA 2 mutation, 100% of them had livedo.  She (jokingly) asks the doctors if they ever examine their patients??  You can also do a google search and find pictures of livedo.  It has never caused me any problems, just that its ugly!  Mine is very obvious, and surprisingly, no Dr. has ever commented on it.   In my younger years (LOL) I was a very active child, teen, single mother of two, etc.  I do not believe that any amount of exercise ever made the livedo better.  I do know that it gets much brighter/more obvious when I am overly hot or cold.

 To me its just one more piece of this puzzle.  I strongly recommend everyone with MM participate in the genetic research!  Lets all get closer to the bottom of this mystery!

God Bless You All
Michele  

Congratulations on this step!!!  We, myself and my parents, just did our "spit collection" yesterday.  It was a little confusing, but we managed just fine.  After you spit in the little cup, the lid is hard to get on straight!  The lid has a liquid in it that is covered with plastic.  When you put the lid on, the plastic gets punctured and you have to mix the sample for 10 seconds.  If the lid isn't on TIGHT, you could have a mess.  The sample then goes into a baggie with a little white "cloth" thing in it.  After you seal it, it then goes into a second bag.  Then into a padded yellow envelope.  Then into the fed-ex return packaging!  It's quite a packaging process for each sample!  You are provided pretty good directions, so you should be just fine.  When I first opened the package, I was a little overwhelmed by all the baggies, etc!  But it was pretty easy to figure out after I did the first one!  Ellen had everything labeled, etc. for each of us!
Again, I encourage everyone with MM to participate in this research.  I know I sound like a broken record here, but it really is quick and easy to participate.  The family history takes the longest.  It didn't help that I couldn't remember how old some of my relatives were, etc. Chalk that up to brain damage...LOL!
Thank you Audge for taking the time to help us all!
God Bless You
Michele

Ok I think I have may have solved my dilema...it might help if I would enter the email in correctly Hopefully it will work this time
Kathleen

OK, I have been checking in periodically on the moyamoya.net website.  I recently clicked on the literature review which took me to a link on PubMed.com
After following this link I came across an article titled:
ACTA2 is not a major disease-causing gene for moyamoya disease.
Shimojima K, Yamamoto T.
J Hum Genet. 2009 Sep 11. [Epub ahead of print] No abstract available.

Does anyone know anything about this? Or where a person could read this?
God Bless You All
Michele

Michele - did you find out about the ACT2A in you and your family from last summer? I just sent in the saliva sample in the mail yesterday and did the informational interview Tuesday. From what Ellen told me, they have tested 200 people with MMD and no one has came back with the mutation. Only people with MMD AND something else - early onset CAD or something else vascular, has presented itself with the mutation, which is interesting. Please let me know what anyone else knows or if anyone else has been tested.