CADASIL

If you or a family member are diagnosed with CADASIL, and genetic testing has confirmed your diagnosis, it is helpful to share your results with your family. Most people with CADASIL inherit the gene change from one of their parents. Siblings and children are at risk of having CADASIL and could consider genetic testing. Full siblings and children are your 1st degree relatives and share 50% of your DNA. Therefore, siblings and children of an individual with CADASIL have a 50/50 or 1 in 2 chance of having the disorder as well.

If it is not known by evaluating the family history, testing of a parent can help to determine which side of the family has the altered NOTCH3 gene that causes the disorder. This can allow extended family (aunts, uncles, and cousins) to know who is at risk. A detailed family history can also provide information about which family members are at risk for developing CADASIL. Predictive testing in asymptomatic at risk adults is available but it is highly recommended that the genetic testing process include genetic counseling for both pre- and post-test guidance. Clinical evaluation of at risk family members can also provide information about any symptoms or signs of CADASIL. Genetic testing of adolescents under the age of 18 for CADASIL, a serious disorder without a specific treatment, is not recommend by most medical professionals.

A genetic medical professional nearby can discuss information and testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Support groups can put you in contact with other people or families that have CADASIL. Support groups include the cureCADASIL and CADASIL Together We Have Hope. The United Leukodystrophy Foundation also provides information and support for CADASIL.

There are also online communities for rare disorders such as [link url="RareConnect” target=”_blank”>RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders. Facebook also has several groups that provide support for people with CADASIL.

The medical cost of CADASIL can be significant. Some families lack the resources necessary to provide for a chronically or terminally ill family member. There are several organizations that provide financial assistance.

Support groups for CADASIL provide advice, guidance, and resources for handling the financial costs associated with a diagnosis of CADASIL. These support groups include CADASIL Together We Have Hope and cureCADASIL.

The Social Security Administration provides disability benefits for people who qualify. CADASIL is not listed in the publication called the Disability Evaluation Under Social Security, also called the "Blue Book." However, people with CADASIL may still qualify for assistance if they have certain symptoms that qualify. For example, "vascular insult to the brain."

The National Organization for Rare Disorders (NORD) has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different caregivers of people with CADASIL. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for CADASIL include cureCADASIL ADVOCACY PARTNER of THINKGENETIC and CADASIL Together We Have Hope.

The age of onset, which is when symptoms first become apparent, can be very different in one person with CADASIL when compared to another person. This is true for people in the same family. Generally, episodes of lack of blood flow to the brain (ischemic episodes) begin around 45-50 years of age. Migraines can appear as early as the 30s. Although the onset of CADASIL is usually in adulthood, there are very rare instances where children have developed symptoms.

If doctors suspect someone of having CADASIL, they will conduct a complete physical examination and talk about a patient and family’s medical history. They may order molecular genetic testing, specialized imaging tests, and a skin biopsy.

Molecular genetic testing can also be used to confirm a diagnosis of CADASIL. If there is a positive family history, a doctor will recommend molecular genetic testing. These tests involve studying the NOTCH3 gene for changes that cause the disorder. This can include sequence analysis, where a part or sequence of DNA within a gene is examined, or deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories. Molecular genetic testing will detect most people with CADASIL, but not everyone and if there is a high suspicion of the disorder further testing will be recommended.

There are more tests a doctor might perform when assessing someone for CADASIL. This can include specialized imaging technique called magnetic resonance imaging or MRI. An MRI uses a magnetic field and radio waves to create images of organs or tissue. An MRI of the brain of people with CADASIL can reveal characteristic changes.

A skin biopsy involves taking a small sample of skin tissue and studying it under a microscope. This can reveal characteristic changes in the skin, specifically abnormal granular material found in the walls of small blood vessels. Another test can be performed on skin sample that shows the buildup of abnormal NOTCH3 protein within the walls of small blood vessels.

Talk to your doctor about what the results of these tests may mean in CADASIL. Also, a genetic medical professional nearby can discuss information and testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

CADASIL can be very different in one person compared to another. It is difficult to make predictions about how the disease will progress for an individual. CADASIL is a progressive disorder and people will get worse. Ultimately, dementia develops and people will need help to perform daily tasks and round-the-clock care. CADASIL does lead to life-threatening problems including chronic pneumonia and repeated strokes. Talk to your doctor and entire medical team about the diagnosis of CADASIL and individual prognosis.

CADASIL is a rare genetic disorder. This means that people with CADASIL have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes contain instructions for proteins in the body. Because of a change in a specific gene (the NOTCH3 gene), people with CADASIL make an abnormal NOTCH3 protein. This protein is vital to the health and function of smooth muscle cells found in blood vessels. The abnormal protein can lead to lots of different problems in the body, particularly in the brain and central nervous system.

CADASIL is an acronym that stands for:

CADASIL is caused by gene changes in the NOTCH3 gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene makes may be abnormal and not work properly, which is the case in CADASIL.

A medical genetics professional nearby can discuss information about gene changes in the NOTCH3 gene and CADASIL. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

CADASIL is caused by a change (variant) in the NOTCH3 gene. Not all changes in a gene necessarily cause disease. If a change is known to cause a disorder, it is known as a pathogenic or disease-causing variant. However, sometimes gene changes are found and scientists are unsure what it means, either because it has not been found before or has only been found in a few people. This is known as a variant of unknown significance. If you have a variant of unknown significance in the NOTCH3 gene, talk to your doctor about further testing that may help find out whether the gene change is pathogenic or not. A genetic counselor may also be able to help you review your test results. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Rare diseases that affect multiple organ systems like CADASIL can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for neurological disorders who will monitor the function and health of the central nervous system and brain (neurologist); a specialist who can assess and treat disorders of the blood and blood-forming organs (hematologist); a psychiatrist; a physical therapist; a rehabilitation physician; a genetic counselor who can help people understand the disease and the implications for the person and other family members; and a clinical geneticist.

Talk to your doctor about the best specialists in your area to follow an individual with CADASIL.

People with CADASIL may have a transient ischemic attack or TIA. This is when there is a temporary (transient) reduction in blood flow to the brain. TIAs usually do not cause any permanent damage to the brain. Many physicians refer to TIAs as ‘warning strokes’ and the risk of a full stroke is increased. Some physicians use the terms ‘mini-stroke’ and transient ischemic attack interchangeably.

The main symptoms of CADASIL are stroke, cognitive impairment, migraine with aura and psychiatric disturbances. Strokes occur because blood flow to the brain is blocked or slowed. The brain ends up lacking oxygen. This can result in weakness of arms or legs, speech and communication difficulties or other problems. Mini-strokes called transient ischemic attacks or TIAs can also occur. Stroke and TIAs can occur multiple times and cause significant disability.

Cognitive impairment refers to a decline in cognitive function. Cognitive function is a person’s ability to process thoughts and reason. It involves memory, perception, thinking, and reasoning. People will begin to have difficulty with everyday tasks and their daily routines. Eventually, cognitive decline results in dementia.

Migraine with aura refers to migraine headaches that occur with "aura", which are additional symptoms such as flashes of light, blind spots or tingling of the hands or face. Migraine with aura often occurs before people have strokes or dementia. The "aura" symptoms may occur just before a migraine develops.

Psychiatric disturbances can include depression, bipolar disorder, panic disorder, apathy, delusional episodes, disturbed sleep, irritability, and changes in behavior. Seizures (epilepsy) is an infrequent finding in CADASIL, but can occur, usually following a stroke.

The course of how these symptoms develop and progress can be very different in one person when compared to another. This is true even for members of the same family. For example, some people do not develop migraines or do not develop psychiatric symptoms.

There are signs and symptoms of CADASIL that only affect a small percentage of people with the disorder. This includes seizures (epilepsy) and acute reversible encephalopathy. Encephalopathy is a general term for disease of the brain. Acute means that the symptoms appear rapidly. Symptoms can include headaches, confusion, and hallucinations. Some people may lose consciousness, which is called "CADASIL coma." Acute reversible encephalopathy and epilepsy both only affect about 10% of people with CADASIL.

After a diagnosis of CADASIL is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist or a neurologist with experience in the disorder. Support groups such as cureCADASIL and CADASIL Together We Have Hope can sometimes provide referrals to physicians or medical centers with experience in treating the disorder.

People diagnosed with CADASIL will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

The decision to undergo genetic testing for CADASIL is a personal one. CADASIL is a serious disorder and there is no cure. If there is a risk of CADASIL (e.g. it has been diagnosed in a family member), then a person can choose to have genetic testing. Predictive testing in such asymptomatic at risk adults is available but it is highly recommended that the genetic testing process include genetic counseling for both pre- and post-test guidance. Clinical evaluation of at risk family members can also provide information about any symptoms or signs of CADASIL. There is no right or wrong answer to this question. Some people choose the testing, while other people prefer not to know.

Genetic testing of adolescents under the age of 18 for CADASIL, a serious disorder without a specific treatment, is not recommend by most medical professionals.

Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Newborn screening is a state run program that screens babies at birth for certain serious medical conditions. The conditions are added to newborn screening programs when early awareness of the disease improves the outcome. As of 2019, there is no newborn screening for CADASIL. This is most likely because there is no medical treatment that can improve the disease course. Information on how to add a disorder to newborn screening programs can be found at Save Babies Through Screening Foundation.

If CADASIL runs in a family, genetic testing can be done on a newborn to see if they have the disorder. If you suspect that someone in your family has CADASIL, you should also talk to a medical geneticist or a genetic counselor in your area. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Research for CADASIL can be found support groups and from some of the following resources:

Physicians recommend that people with CADASIL do not smoke because smoking increases the risk of stroke. They should also avoid anticoagulant and thrombolytic therapy. Anticoagulant therapy helps to lengthen the time it takes a person’s blood to clot. These drugs are better known as blood thinners. Thrombolytic therapy is the use of drugs that break up or dissolve blood clots. These medications increase the risk of a cardiovascular accident. People with CADASIL should also not undergo an angiography. This is an exam that involves injecting a substance that is impenetrable by x-rays (contrast medium) into an artery so that an x-ray series can be taken that visualizes blood flow through certain blood vessels. An angiography also increases the risk of a cardiovascular accident in people with CADASIL.

As of July 2019, there is no cure for CADASIL. There are several treatments used to help reduce or manage the health problems seen in the disorder. However, because the disorder can affect people very differently, treatment options can be different among people with the disorder. Common treatment options are pain relievers for migraines, medications for behavioral or mood disorders like anti-depressants for depression, and anti-seizure mediations (anticonvulsants) for epilepsy. Some physicians recommended antiplatelet therapy to try and prevent stroke, but there is no scientific data that shows this therapy is effective. Psychological support and genetic counseling are essential for patients and families to help to understand and cope with a diagnosis of CADASIL.

There are patient registries for CADASIL. A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, how a disorder progresses or affects people and other information. Patient registries require that patients either directly or through their doctor submit personal information. Talk to a genetic counselor about the pros or cons of participating in a patient registry. There are patient registries for CADASIL including the CADASIL Together We Have Hope Worldwide Registry and the cureCADASIL Family Registry.

Some people with CADASIL will need palliative care. Palliative care ensures that a dying person is as pain free as possible and that all of their physical, social, emotional, and spiritual needs are met. Palliative care requires a close cooperation among family members, immediate relatives, and physicians, and other medical personnel. A primary care physician or local hospital may be able to offer advice and local resources for palliative care. Hospice care may also be recommended. A hospice is an institution that provides care for the chronically sick, particularly people who are terminally ill.

The National Hospice and Palliative Care Organization has specific information and support for families considering palliative or hospice care for a family member.

Eating right and getting proper nutrition is important for everyone. Physicians encourage people with CADASIL to exercise and eat healthy. Some people choose to follow a Mediterranean diet. This diet focuses on fruits, vegetables, whole grains and replaces butter with healthier fats such as canola oil. This diet reduces the risk of heart disease, but there is no evidence that it has any additional benefits people with CADASIL. Individuals and families dealing with a diagnosis of CADASIL should talk to their medical team about eating right and proper nutrition.

CADASIL is a genetic disorder. It is not contagious and it is not acquired during your lifetime. CADASIL is caused by a gene change in the NOTCH3 gene. This altered gene is part of your genetic makeup. Although the gene change is present at birth, symptoms do not develop until young adulthood or middle age. In rare instances, children do develop symptoms. If you have questions about the genetics involved in CADASIL, talk to a genetic counselor in your area.

The use of anesthesia in people with CADASIL should follow special precautions. Any procedure that requires anesthesia should be performed by an anesthesiologist who is familiar with disorders like CADASIL. Orphanet, a website dedicated to providing support and information on rare disorders, provides a fact sheet with recommendations on how to use anesthesia in people with CADASIL. Any decisions on anesthesia need to be make in close consultation with doctors and the entire medical team.

We each get two copies of most of our genes from our parents. One copy comes from our mother and the other copy comes from our father. In CADASIL some people who have the disorder are the first person in the family with the disorder. This occurs because of a de novo mutation, which means that the altered NOTCH3 gene occurs randomly, most likely after fertilization. In families with a child with a de novo mutation, the likelihood of having another child with CADASIL is extremely low.

Other times, CADASIL is inherited from a parent. A person who has the disorder could pass on the gene alteration in an autosomal dominant manner. This means a child only needs one altered NOTCH3 gene to have the disorder. So, a person with CADASIL would have a 50% chance passing on the gene change to a child.

If you have a family member with CADASIL and you would like to learn more about the genetics of the disorder, talk to your doctor or meet with a genetic counselor to discuss testing options. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

CADASIL is inherited in an autosomal dominant manner. This is one way a disorder or trait can be passed down through a family. The first word, "autosomal," means on a chromosome that both males and females carry. Therefore, CADASIL can affect either gender. The second word, "dominant," means a change in one copy of a person’s NOTCH3 gene is enough for them to develop CADASIL. We have two copies of every gene – one from our mother and one from our father – for a dominant condition, only one of them needs to have the problem. This means that if a parent carries altered NOTCH3 gene, they have a 50% chance to pass the affected gene to each of their offspring, regardless of gender. This also means that there is a 50% chance that an affected parent would not pass this on to their children. Genetic testing may be available to determine if a child has inherited the altered gene. If you have a family member with CADASIL and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

CADASIL is caused by a change in a gene called NOTCH3. The NOTCH3 gene produces a protein. This protein has a job and is mainly found in smooth muscles cells of small blood vessels in the brain. This includes small arteries, arterioles, and capillaries. Because of the change in the NOTCH3 gene, the protein it produces does not work properly. The abnormal protein builds up in these blood vessels, damaging them and leading to the destruction of smooth muscle cells. This hinders or blocks the flow of blood to the brain, which causes strokes or mini-strokes called transient ischemic attacks and tissue damage to the brain.

CADASIL is a rare disorder. Most people and even many physicians are not familiar with it or have never heard of it. Support groups offer information and support for CADASIL. These groups also have advice and resources to help families and people raise awareness of CADASIL. Support groups include cureCADASIL and CADASIL Together We Have Hope. The United Leukodystrophy Foundation also provides information and support for CADASIL.

A doctor may suspect a diagnosis of CADASIL because of certain symptoms. CADASIL may be suspected because of a history of strokes or mini-strokes (transient ischemic attacks), particularly if there is a family history of stroke. Young adults who have multiple strokes or mini-strokes may be suspected of having CADASIL. A doctor will do a complete physical examination and talk about a patient and family’s medical history. To confirm a diagnosis, a doctor may recommend genetic testing. These tests involve studying NOTHC3 gene for changes (mutations) that cause CADASIL. At-risk members of the family who do not have symptoms can receive genetic testing to see whether they have the disorder.

If you believe that you or your child has CADASIL, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. cureCADASIL and CADASIL Together We Have Hope can provide referrals to physicians experienced in diagnosing and treating CADASIL. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

If you suspect that someone in your family has CADASIL, you should also talk to a genetic counselor in your area. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

To learn about ongoing clinical research into CADASIL ask a physician who specializes in the disorder.

Ongoing studies for CADASIL can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for CADASIL include cureCADASIL and CADASIL Together We Have Hope. The United Leukodystrophy Foundation also provides information and support for CADASIL.

One of the best ways to find a treatment center or physician with experience in treating CADASIL is to contact a national support group. Support groups for CADASIL include cureCADASIL and CADASIL Together We Have Hope. The United Leukodystrophy Foundation also provides information and support for CADASIL.

CADASIL is a rare disorder. Rare disorders often go unrecognized or misdiagnosed and the incidence and prevalence of individual rare disorders is often unclear or unknown. Prevalence is the measurement of all individuals affected by the disease at a particular time. Incidence is the amount of new people with a disorder or newly-diagnosed. Some registries have estimated that the disorder occurs in about 2-4 people per 100,000 in the general population. In Europe, the estimate is 1 in 25,00-50,000. CADASIL occurs worldwide.

There is no specific treatment for strokes associated with CADASIL. Antiplatelet therapy is recommended for stroke, but there is no evidence that this is effective. Antiplatelet therapy keeps blood clots from forming. Some physicians recommend that people with CADASIL follow all guidelines for reducing the risk of stroke. This includes reducing blood pressure and avoiding smoking. Some physicians recommend statins, a class of drugs that reduces fats in the blood. Aspirin can be given after a person has a stroke. This is a low-dose of aspirin, taken daily.

Migraines associated with CADASIL are treated with pain relievers including nonsteroidal anti-inflammatories (NSAIDs), paracetamol, ibuprofen, and aspirin. A class of drugs called triptans are commonly used to treat migraines. Some physicians state that these drugs should not be used to treat migraines in people with CADASIL. Triptans narrow blood vessels in the brain and reduce swelling. These physicians believe these drugs can increase the risk of stroke. There is no evidence that this is true, but such medications should be used with extreme caution. Some people will have frequent migraines and their doctors may recommend preventive (prophylactic) treatment. Preventive treatment is when a person takes medications or other treatments even though symptoms aren’t present. This is done to prevent the symptoms from occurring. Most people with CADASIL won’t need preventive treatment of migraines.

L-Arginine is an amino acid which we all have in our diet. In the body it is converted into a chemical called nitric oxide, which causes blood vessels to vasodilate (open wider) and this can increase blood flow. It has been suggested that it could increase blood flow in the brain of CADASIL sufferers. Some people with CADASIL report that it has helped them with migraines, fatigue, and/or other quality of life issues. It can be bought as a dietary supplement and doses range. The Mayo clinic has a supplement site that lists a variety of doses for different indications (http://www.mayoclinic.org/drugs-supplements/arginine/dosing/hrb-20058733). Although it is for the peripheral vascular system and not the brain, perhaps the closest studied disease is peripheral vascular disease and the information from the site lists a variety of doses:

"For peripheral vascular disease and claudication, 24 grams of L-arginine has been taken by mouth daily for eight weeks, and 3.3 grams of L-arginine has been taken by mouth twice daily. Eight grams of L-arginine has been given intravenously twice daily for three weeks. Doses of 3-6 grams of L-arginine have been taken by mouth daily for one day to six weeks."

http://www.mayoclinic.org/drugs-supplements/arginine/dosing/hrb-20058733

However, there is no data from clinical trials to show that L-Arginine does improve the situation in CADASIL or what dose to take. (http://www.cambridgestroke.com/faqs.php) If you want to take a supplement, you should talk with your doctor about the best dose and length of time to take it.

Having said that there are several medication that have been inspected through studies for different aspects of CADASIL like lowering stroke risk that would be important to discuss with a doctor who really understands CADASIL if you are affected by the condition.

Physicians believe most women with CADASIL can become pregnant and have children without any problems. However, there are reports of some women developing neurological problems during or shortly after delivery. These problems include migraines, mini-strokes (transient ischemic attacks), and symptoms that are similar to preeclampsia. Preeclampsia is a complication of pregnancy where a woman has very high blood pressure. There may not be any other symptoms or there can be damage to organs, most likely the kidneys.

People who have CADASIL may want to talk to a genetic counselor before planning a family. CADASIL is inherited in an autosomal dominant manner. This is one way a disorder or trait can be passed down through a family. The first word, "autosomal," means on a chromosome that both males and females carry. Therefore, CADASIL can affect either gender. The second word, "dominant," means a change in one copy of a person’s NOTCH3 gene is enough for them to develop CADASIL. We have two copies of every gene – one from our mother and one from our father – for a dominant condition, only one of them needs to have the problem. This means that if a parent carries altered NOTCH3 gene, they have a 50% chance to pass the affected gene to each of their offspring, regardless of gender. This also means that there is a 50% chance that an affected parent would not pass this on to their children. Genetic testing may be available to determine if a child has inherited the altered gene. If you have a family member with CADASIL and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Parents who have a family history of CADASIL (or if one parent has the altered NOTCH3 gene that causes the disorder) may choose to have their child tested for CADASIL before the child is born. This is known as prenatal diagnosis. If the gene change(s) that causes CADASIL are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. Prenatal testing for genetic conditions that commonly present in adulthood is uncommon and need careful consideration and genetic counseling is recommended.

Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available. During this process, embryos are created through in vitro fertilization (IVF) by taking eggs from the mother and sperm from the father. The two are then combined in the laboratory. A few cells are removed from the embryo and are then tested to determine whether or not that specific embryo inherited the altered NOTCH3 gene. Then, the family can choose to only have the embryos without CADASIL transferred to create the pregnancy.

A genetic counselor can help families discuss the options for family planning. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

CADASIL is an acronym for:

There are a couple of support groups or organizations for CADASIL that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for CADASIL include: cureCADASIL ADVOCACY PARTNER of THINKGENETIC and CADASIL Together We Have Hope. The United Leukodystrophy Foundation also provides information and support for CADASIL.

There are several disorders that have signs and symptoms that overlap with CADASIL. Because CADASIL is a rare disorder, many people are misdiagnosed before the correct diagnosis is made. CADASIL may be mistaken for more common, better known disorders like multiple sclerosis or Alzheimer’s disease. Sporadic small vessel disease can also resemble CADASIL. Sporadic small vessel disease includes Binswanger’s disease, a rare disorder in which thickening and narrowing of the arteries in the brain causes damage to the brain eventually leading to dementia.

CADASIL can also be mistaken for other rare genetic disorders including Fabry disease; MELAS, which is an acronym for [m]itochondrial [e]ncephalopathy, [l]actic [a]cidosis, and [s]troke-like episodes; CARASIL, which is an acronym for [c]erebral, [a]utosomal [r]ecessive, [a]rteriopathy with [s]ubcortical [l]eukoencephalopathy; and some forms of leukodystrophy. Leukodystrophy is a general term for a disorder that affects the growth and health of myelin. Myelin is a covering or "sheath" that coats, protects, and insulates nerve fibers. Collectively, myelin-covered nerve fibers are known as white matter.

Another rare disorder called primary angiitis of the nervous system can occur in young adults and cause strokes. Angiitis is inflammation of the walls of small blood vessels.