WIKI CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) by Carinn C. Description Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, better known as CADASIL, is a genetic disorder that is caused by mutations in the NOTCH3 gene. It effects the small blood vessels in the brain that causes strokes and other injuries, especially in the deep parts of the brain [1]. The most common symptoms of CADASIL include memory, strokes, migraines, mood changes and seizures, mostly affecting the brain. Most people with CADASIL look very similar to those without it, however they tend to be weaker, have slower reflexes, and be paranoid or schizophrenic. CADASIL usually effects people in their forties, all sorts of races and both men and women. Throughout the world, CADASIL occurs for about every 2 in 100,000 adults, and has diagnosed exactly 400 families already [2]. Available information doesn't suggest that enviromental factors play a role in the development of CADASIL in people.  trademark CADASIL image[5] Treatment Just a little bit of Aspirin and some therapy is a good cure for a few of the symptoms of CADASIL Research  one of NINDS research centers[8] Current Events CADASIL wasn't discovered until 1996, so the discovery of CADASIL itself, could be a breakthrough and a recent development. Because of how recent it was discovered, there has not been much awareness of this fatal mutation. To raise awareness, people who have CADASIL, or know people who have the disease, have put up blogs on the internet to describe how they live their lives and there are many foundations that are dedicated to raising money to find cures to CADASIL. In one article, for the CADASIL Together We Have Hope Newsletter, a woman writes about how she handled the news of her diagnosis. At first, she was overwhelmed and confused about all of the decisions she had to make on which medications to use and what she was to expect from the therapists. Eventually, by using an analogy with planes, her friend helped her cope with everything, and told her to be optimistic, and not let anything “drag”. On this webpage, people write short blogs about what their plans are for dealing with the disease and let the reader know how they plan to live the rest of their lives.  brains with CADASIL[9] Genetics CADASIL is caused by a mutation in the NOTCH3 gene, on chromosome 19. The NOTCH3 gene is in charge of making a protein called Notch3, which is important for the health of muscles in the walls of the small blood vessels in the brain. The genetic mutation in CADASIL causes problems with the Notch3 protein and weakens muscles in the walls of the blood vessels. By observing CADASIL patients using high-powered microscopes, scientists can see clumps of the Notch3 protein in the walls of their small blood vessels. Also, there are other vessel wall changes that end with the brain being poorly supplied with oxygen and nutrients. These vascular wall changes can be seen throughout the whole body, however CADASIL seems to harm only the brain [1]. CADASIL is inherited in an “autosomal dominant” pattern. This means that one copy of the altered NOTCH3 gene in each cell is enough to cause the disorder. In most cases, the person with CADASIL, inherits the mutation from its affected parent. However, there are some rare cases where people with no history of the disorder in their family have a new mutation in their NOTCH3 gene that causes them to have CADASIL [3]. There is a 50% chance that someone with a history of CADASIL could be diagnosed with it.  there is a 50% chance someone (both male or female) could be diagnosed with CADASIL[10]  y-axis: # of samples tested, by the 20s x-axis: Sporadic; Familial pinkish purple/maroon: mutation negative light purple: mutation positive [11] A day in the life Life for a person with CADASIL is pretty much the same as any other life. The only difference is that they know that they will die in no more than 20 years. So, CADASIL patients tend to try to live with more optimism in their life, and embrace all of what it has to offer. Also, they usually attend therapy sessions to help cure some of their symptoms such as depression. Most interviewed patients have said that they don’t like having the pity of others. “do I want compassion and understanding, absolutely! But pity won’t get me anywhere in life. Negativity, fear and worry won’t get me anywhere, either,” says Sarah Moris in her article about how she has been coping with CADASIL. No matter how hard it was for me to get up in the morning, she said, I would never let my family and friends see how horrible I felt. Another CADASIL patient, Kurt Shonka, said that he “took severe measures to reduce stress and increase joy.” So, most patients simply try to enjoy the last years of their lives that they have before they pass on to their next ones. The key to living out their lives, as they all have said, is optimism. We all know we are going to die eventually, CADASIL patients are simply told straight out. After dealing with depression, they all eventually turn around to see the brighter side of life. Click here to see a 10 minute documentary about a man with CADASIL[15] Click here to see a slideshow that a few students from the University of Missouri made about CADASIL[16]  a family, the father is diagnosed with CADASIL, he looks no different from any of us[12]
 cerebral; a brain [13] Bibliography/ Citations www.pubmed.gov. <http://www.ncbi.nlm.nih.gov/pubmed/16796821?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum>. emedicine.medscape.com. http://emedicine.medscape.com/article/1423170-overview, cadasil.memorydisorder.org. http://cadasil.memorydisorder.org/aboutcadasil/basicinfo.htm (“1”) "Medic8 Genetic Disorders." <http://www.medic8.com/genetics/cadasil.htm>. (“2”) "Genetics Home Reference." ghr.nlm.nih.gov. <http://ghr.nlm.nih.gov/condition=cerebralautosomaldominantarteriopathywithsubcorticalinfarctsandleukoencephalopathy>. (“3”) Moris, Sarah. "Coping with a CADASIL Life." 2006. <∑ home.earthlink.net/~cadasilfoundation/sitebuildercontent/sitebuilderfiles/coping.pdf ->. "POSITIVE ATTITUDE." www.websitetoolbox.com. <∑ http://www.websitetoolbox.com/tool/post/cadasil/vpost?id=2118169>. "NINDS CADASIL information page." www.ninds.nih.gov. <http://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm>. (“4”) www.bbc.co.uk. <www.bbc.co.uk/.../series8/week_nine/jack203.jpg>. home.earthlink.net. <http://home.earthlink.net/~cadasil/research.htm>. [14] youtube.com. <http://www.youtube.com/watch?v=E9gQ-J7O_T0&feature=related>. [15] youtube.com. <http://www.youtube.com/watch?v=60Z_Ndu0RmU>. [16] Image References home.earthlink.net. <home.earthlink.net/ ~cadasil101/doctors_page/>. [5] hayesphotoweb.com. <hayesphotoweb.com/ medical/Aspirin3.jpg>. [6] www.cartoonstock.com. <www.cartoonstock.com/.../ rma/lowres/rman752l.jpg>. [7] www.cadasiltrust.org. <www.cadasiltrust.org/ news.htm>. [8] www-dsv.cea.fr. <www-dsv.cea.fr/. ../neurospin>. [9] www.socialstyrelsen.se. <http://www.socialstyrelsen.se/en/rarediseases/CADASIL.htm>. [10] www.rdehospital.nhs.uk. <http://www.rdehospital.nhs.uk/prof/molecular_genetics/tests/clinical_genetics/cadasil_detection_rates.html>. [11] www.youngdementia.org. <www.youngdementia.org/>. [12] www.mindhacks.com. <http://www.mindhacks.com/blog/togetherness/index.html>. [13] OTHER |
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whos is this?
Keep going!!!!!!!!
That sight has great info!
Whos is this?
you should get working
This is my project.
Thank you Miss Dolby for showing your concern, and thankfully i have finally strapped myself down and gotten to it. I'm really excited for the outcome, so keep checkin' mine out!
Thank you!
looks great!!
you have done a lot of good work mrs. candelaria
hehe, thanks
good job, i love the colors!!!!!
wow! you accually did a lot of work. good going H.
i cant see the cross word puzzle maybe its my computer but theres no words, otherwize good