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CADASIL Together We Have Hope is a non-profit organization established on May 10, 2005.  For the  full  detailed  version of  the website  go to www.cadasilfoundation.org

UNDERSTANDING CADASIL                                 

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is caused by a mutation (a defect) in NOTCH3, a gene located on chromosome 19.  So far, over 200 different mutations causing the disorder have been identified. NOTCH3 plays an important role during foetal development as it regulates the  formation of different kinds of tissues, for example smooth  muscle in the arteriolar wall. The function of the gene later in life is still unknown. CADASIL symptoms result from changes in the arteriolar wall.  Cells in the smooth muscle layer of the arteriolar walls gradually degenerate, and are replaced by connective tissue. As a consequence, the arteries thicken and become more rigid,  resulting in decreased blood flow and ischemia. The exchange of nutrients between blood and tissue is also disturbed. CADASIL typically affects small branches of long arteries penetrating deep into the white matter of the brain. The long arteries have few branches and the obstruction of a branch causes restricted blood flow and oxygen deficiency.  As a consequence, small lacunar infarcts (diameter less than 20mm) develop in the white matter and in deep parts of the grey matter (the basal  ganglia). This is because many blood vessels supply the outermost layer of grey brain matter. Infarcts in this area are less likely to deprive the brain of oxygen and less damage  results. 

HEREDITARY

This is a hereditary familial disease. Its  transmission is autosomal dominant, which means that a person already affected by the disease has a 50% chance of passing the abnormal gene on to his or her children.  In a few known  exceptional cases, the mutation of the Notch3 gene has occurred randomly ("de novo mutation")  without having been transmitted by one of the parents.  

It is important for you to know that there is nothing that you or your family did that caused you  inherit the CADASIL gene. We have no control over the genes we inherit, just as we have no control over the genes we pass on to our own children. 

SYMPTOMS

MIGRAINE like headaches are seen in approximately 40% of patients. Most often, the aura is visual and includes a fleeting visual  disturbance that takes place prior to the onset of the headache.  Migraine with aura can be the first sign of the disorder in about half of the cases. Severe migraine with aura may be difficult to  distinguish from TIAs. Most patients  (85%) are affected by TIAs or minor strokes.

TRANSIENT ISCHEMIC ATTACK (TIA) is a reversible episode of oxygen depletion. The  attacks are caused by the occlusion of a small  artery leading to oxygen deficiency that can cause  brain  damage. The symptoms are similar to stroke, but are relieved within a few hours.  The most common symptom of minor stroke is mild paresis or numbness in the arm or leg on one side of the body.    

Patients who have suffered from a MINOR STROKE may experience speech difficulties, temporary  episodes of memory loss or other cognitive  problems sometimes occur.

STROKE is a term for brain hemorrhage and brain infarction.  A stroke occurs when a blood vessel that carries oxygen and nutrients to the brain is either blocked by a clot or bursts (or ruptures). When that happens, part of the brain cannot get the blood (and oxygen) it needs, so it and the brain cells die. After only a  few minutes, the cells are irreparably damaged, a condition known as brain infarct.   CADASIL is slowly progressive, and around half of all individuals with the disease will suffer several TIAs or strokes. The average patient has two or three significant strokes during a lifetime, but the number of strokes can vary considerably.

In the vast majority of cases, patients affected will present with ischemic episodes, cognitive defects, migraine like headaches or psychiatric disturbances. The onset and severity of these symptoms is highly variable, even within  families. Cognitive function worsens slowly over  time and  there is variability in the onset and severity of cognitive  impairment. Patients demonstrate dementia in presence of severe loss of cognitive function. Seizures, although rare, are  observed in affected  individuals. Other symptoms may include speech  defects. The overall course is  variable. Early onset of symptoms does not necessarily mean that the   disorder will progress rapidly. People manage their daily lives for a long time despite having suffered several strokes. Concentration problems may arise, and the ability to think clearly declines. Please note: additional  symptoms. which are not listed , may occur.

MEDICINES AND PROCEDURES TO AVOID

It is important to tell your doctors that you have CADASIL so that certain treatments or tests can be avoided. 

 
*Avoid Thrombolytics and Anticoagulant Treatments which aim at unblocking blood vessels as they increase the risk of a cerebral hemorrhage. 

*Avoid Vasoconstricting Medicines (issued from rye ergot or from Triptan) may increase the risk of cerebral infarction. 

*Avoid Cerebral conventional angiographies (contrast agent within the arteries in the brain for examination of the cerebral vasculature) should be avoided because of potential neurological complications (migraine with extended and severe aura).

*Anesthesia must be monitored as it could cause abrupt changes in blood pressure.

Finally, you must inform the medical teams about current medications and the corresponding doses. This precaution will help to avoid the combinations of incompatible medication and the  risk of overdose.

LONG TERM MANAGEMENT 

Supportive care is needed. Unfortunately at this time there are no interventions that can effectively prevent the course of CADASIL or its clinical manifestations. Certain signs and symptoms such as  headaches, migraines, dementia, etc. can be treated as they appear. ClinicalTrials.gov is a listing of  federally and privately supported clinical trials   conducted in the United States and around the world. This website is a searchable database, that  provides patients, family members and the public with information about current and past clinical research studies on safe and effective medication and therapies.
http://clinicaltrials.gov/ct2/search 

TESTING FOR CADASIL

GENETIC TEST

This blood test is the most popular to confirm CADASIL. It detects mutations in the NOTCH3 gene.  Only a small amount of blood, which can be taken from a vein, is needed for this genetic test. 

SKIN BIOPSY

A very small skin biopsy is easily performed under local anesthetic. It is important this is   processed in a special way to allow the sample  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).  If these GOM is present, we can be almost certain that the individual does have CADASIL. However, the skin biopsy can be negative.

An MRI Alone Cannot Confirm CADASIL

The magnetic resonance scan (MRI) is usually performed and shows characteristic appearances with abnormalities in the deeper parts of the brain or white matter, in the temporal lobe poles. This can be repeated to determine whether the disease is progressing.  

A SPINAL TAP is not actually u
seful for diagnosis. 

RESEARCH STUDIES

Further research or studies are crucial to providing a treatment or cure for better quality of life.  Keep abreast of the latest research projects by searching the worldwide web.

www.cadasilfoundation.org  
http://clinicaltrials.gov/ct2/search

PROFESSIONALS

Partners Telestroke Center, Boston
15 Parkman Street, WACC 729J 
Boston, Massachusetts, 02114 USA
Telephone: 617-724-3999

University of Michigan Health System
Taubman Center Floor, Reception C,
1500 E Medical Center Dr SPC 5322,
Ann Arbor, Michigan, 48109 USA 
Telephone: 734-936-9020

University of Utah Health Care,
Vascular Neurology Clinic,
Neurosciences Center
175 North Medical Drive
Salt Lake City, Utah  84132  USA
Telephone: 801-585-7575

Centre de référence des maladies  vasculaires
rares du cerveau et de l’œil  (CERVCO)
Service de Neurologie, Hôpital Lariboisière
Paris, France
Telephone: 33 (0)1 49 95 25 91 

CONTACT US:

CADASIL Together We Have Hope
Established May 2005 as a 501 (c)(3)
3605 Monument Drive
Round Rock, TX 78681
512-255-0209 or 1-877-519-HOPE

 
email: inf
o@cadasilfoundation.org
main website: www.cadasilfoundation.org

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http://ibuildapp.com/app-414942-CADASIL+-+A+Rare+Genetic+Disease#sthash.BAUXnzbn.dpuf

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The information provided on this website is designed to complement, not replace, the relationship between a patient
and his/her own physician.

 

Professor Hugues Chabriat, the Head of the Department of Neurology in University Hospital Lariboisiere and Coordinator of the Referral Centre for Rare Cerebrovascular Diseases (www.cervco.fr) in Paris, France.

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