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C A D A S I L
www.cadasilfoundation.org
Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencphalopthy
Together We Have Hope Non Profit Organization
     

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CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is heredity disease that affects the muscle walls in the small arteries that provide blood flow to the brain.  The gene prohibits the body from making a protein; this allows the small blood vessels to be defective.  The blood vessels are so small they cannot be detected by the naked eye. (A layman’s definition)    CADASIL is a genetic disease of migraine in combination with small strokes. Though we do not know for sure, the white matter is most likely being affected by the small strokes. Sometimes the strokes are large enough where you may notice a change in the patient; sometimes they will be smaller so that one only notices a problem after several strokes have occurred.

This disease is characterized by relapsing strokes with neuropsychiatry symptoms and affects relatively young adults of both sexes. It is a hereditary disease. Mutations in the NOTCH3 gene cause CADASIL. The Notch3 receptor protein plays a role in the development and maintenance of vascular smooth muscle cells. CADASIL results from mutations that appear to cause the Notch3 protein to build up abnormally in the smooth muscle cells surrounding blood vessels in the brain. The accumulation of an abnormal version of the Notch3 protein is thought to cause the degeneration of these cells, leading to the loss of function of blood vessels in the brain and heart.  It is not a bacteria or virus or other infectious agent does not cause CADASIL. It is not a cancer. 
This condition is inherited in an Autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. The main effect of the arterial disease in CADASIL seems to be an alternation of the blood circulation in the deep cerebral regions. The signs of the illness are very various and there is absolutely no specific symptom providing proof of the disease. In symptomatic CADASIL patients, the MRI of the brain generally shows abnormal signals in a distinct area, the so-called white matter. However, the extent of these abnormalities is various and nonspecific. Diagnosis of CADASIL cannot be made on MRI alone.   It starts   during mid   adulthood and is characterized by recurrent      ischemic     events    (transient or permanent),    attacks    of migraine with    aura,     severe mood disorders, and sub-cortical dementia and, at MRI, and a white spread Leukoencephalopathy.

What are the stages of CADASIL?  The stages differ so much between patients. Some people may have mainly the migraines, other have only the strokes. CADASIL tends to slowly progress.  Familial hemiplegic migraine, migraine with and without aura, transient an ischemic attack has also been shown in some families to map close the CADASIL locus.  It has been said that dementia and psycho affective disturbances are major diagnostic criteria for CADASIL.  The disease stages are so different from one patient to another and allow no exact individual prognosis. It must be emphasized that the course of the disease is very variable and that the number of patients with only slight symptoms is probably underestimated. Migraine, particular migraine with an aura is one of the main symptoms of CADASIL.     It is quite difficult to make the diagnosis of CADASIL purely on
headache symptoms. Skin Biopsy would need to be performed. Mini strokes occur later in the course of the disease and have a very distinct clinical presentation.
 The most common type of stroke is weakness affecting one side of the body. If recurrent strokes occur, this can lead to some persistent disability, which is most usually weakness, or slurring of the speech. Migraine is another common feature of the disease. This most commonly starts in the 20s but the onset is variable. Quite frequently, this is what we call "complex" migraine. This means    that in addition to the headache there are short-lived   neurological symptoms, most commonly, some disturbance of vision. Individuals with CADASIL can quite frequently suffer from anxiety or depression. Not surprisingly, depression is very frequent after any type of stroke and usually improves with time and treatment if necessary. However, occasionally, |depression or anxiety may occur before any other symptoms of CADASIL.   A small number of CADASIL sufferers may experience an encephalopathic  illness characterized by a short period of  impaired consciousness and neurological abnormalities, which usually recovers after about 2 weeks.  CADASIL is a microangiopathy mainly affecting  the brain. Affected individuals experience transient ischemic attacks (TIA's) and stroke.

 How does the white matter get there?  White matter is already in the brain. CADASIL cannot be only diagnosed as having matter disease. Patients who look normal and the MRI comes back so badly, it is hard to believe that the MRI results are correct for that person. Presence of white matter abnormalities on MRI does not mean that the deep white matter is destroyed. We know that many patients have extensive white matter abnormalities on MRI but no clinical symptoms.  The strokes are what we refer to as lacunar strokes (literally meaning a small lake or
hole in the brain). Because they are small, they tend to be fairly mild and individuals often recover well.

 Is there anything we can do to slow down the progress of CADASIL?  The long-term management of CADASIL patients, either symptomatic or asymptomatic is not yet defined. No treatment has so far prospectively been studied in this disease. CADASIL tends to progress slowly. A number of patients are on an aspirin a day, or using a different form of nitric oxide supplement with outstanding results (L-Arginine).   Currently there
is no medical data that exists that proves that this supplement helps some of the symptoms of CADASIL.

How rare is CADASIL?  It is underestimated the
number of people with CADASIL as differential diagnosis of CADASIL includes multiple sclerosis (MS) [Vahedi et al 1996], Binswanger's disease [Gutierrez-Molina et al 1994], and primary angiitis of the nervous system [Williamson et al 1999].    These three diseases have clinical characteristics and MRI abnormalities that may resemble those of CADASIL.    They are, however, sporadic diseases and specific signs such as hypertension in Binswanger's disease and oligoclonal bands in the spinal fluid of individuals with multiple sclerosis will (mostly) be lacking in individuals with CADASIL [Dichgans et al 1999].       CADASIL does not involve the spinal cord or optic nerves as is common in MS.

How can I get tested?
For a full list of testing sites around the world go to www.cadasilfoundation.org and scroll down to testing site. .
 A, MRI alone cannot detect CADASIL  a skin biopsy detecting abnormality in the small arteries of the skin with a particular deposit which can be seen in electron microscopy or  blood test identifying  mutation identification by DNA sequence a being used now. 
MRI:  A magnetic resonance scan (MRI) is usually performed and shows characteristic appearances with abnormalities in the deeper parts of the brain or white matter. This is a safe scan that involves no radiation but some people find it rather claustrophobic. This scan may be repeated to determine whether the disease is progressing.
Blood Tests: Detects mutations in the Notch3 gene. 
Prenatal Testing: 2005 the first prenatal testing is being used.
Skin Biopsy: CADASIL results in characteristic changes in the blood vessels.  A very small skin biopsy is easily performed under local anesthetic. It is important this is processed in a special way allowing it to be looked at under high magnification using an electron microscope. Under this magnification, one can frequently see abnormal collections of material, which we call GOM (granular osmiophilic material) as shown by the arrows in the figures. If these GOM are present we can be almost certain that the individual does have CADASIL. However, the skin biopsy can be normal.

In 1997, the  web site for CADASIL was created by one of our directors in hopes she could help others and find out more about this disease. The response has been fantastic. This went from helping others to a support group links and in May 10, 2005 we started a all volunteer Non-Profit Organization “ TOGETHER WE HAVE HOPE”  

Our mission: We are devoted in promoting awareness, support and research for this genetic disease for CADASIL patients, families, friends and healthcare providers. Creating a communication network among families and identifying sources of medical care and social services. 

Our Vision: An environment where affordable diagnosis and up-to-date care is readily available with cost effective treatment for everyone

How can you help
:
Please go to our website at www.cadasilfoundation.org and sign our guestbook. We will mail you the most up to date information, newsletters, etc.

This non-profit organization was created May 10th, 2005 and is recognized by the IRS as a 503(c)(3) non-profit and donations are tax deductible.  We are an all-volunteer organization. Together We Have Hope is making a difference in the lives of people touched by CADASIL. Your contributions will be used 100% towards making our mission and vision becomes a reality. Please remember every donation counts. 
 http://home.earthlink.net/~cadasil/donations.htm

We have over 350 confirmed cases through blood test or skin biopsy on our database and have over 125 doctors who have seen patients with CADASIL worldwide.

This information is to assist with resources and learning about CADASIL

                         Original 5/1999     Revised 2/06

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CADASIL Together We Have Hope
3605 Monument Drive
Round Rock, Texas 78681
512-255-0209 cell 512-585-2052
cadasil@earthlink.net

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