Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Dementia, hereditary multi-infarct type; Familial vascular leukoencephalopathy;
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
CADASIL is caused by a variant (or
- Recurrent ischemic strokes (transient ischemic attack/stroke) in adulthood that may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. Transient ischemic attacks and stroke are reported in approximately 85% of symptomatic individuals
- Progressive cognitive decline with
dementiadeveloping in about 75% of affected people including significant difficulty with reasoning and memory
- Migraine, usually with aura, as the first symptom in the third decade of life
- Psychiatric problems such as mood disturbances (apathy and depression), presenting in about 30% of people with CADASIL
Seizureswith epilepsyis present in 10% of affected people and usually presents at middle age
- Diffuse white matter lesions and subcortical infarcts on neuroimaging.
Less common signs and symptoms may include:
- Other psychiatric issues such as gambling, a seizure lasting 30 minutes or longer, or a cluster of shorter seizures for 30 minutes or more with little or no recovery between episodes (recurrent status epilecticus), psychosis, and bipolar disease
- Slow movements and tremors (parkisionism)
- Memory loss (amnesia)
- Dysfunction of one or more peripheral nerves, typically causing numbness or weakness (neuropathy)
- Muscular weakness due to a muscular disease (myopathy)
- Confusion, fever and coma (CADASIL coma)
- Acute vestibular
syndrome( rapid onset (over seconds to hours) of vertigo, nausea/vomiting, and abnormal gait in association with head-motion intolerance and abnormal eye movements, lasting days to weeks)
- Spinal cord involvement.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Multifocal hyperintensity of cerebral white matter on
|30%-79% of people have these symptoms|
Lack of feeling, emotion, interest
|Migraine with aura||0002077|
|Transient ischemic attack||
|5%-29% of people have these symptoms|
Excessive, persistent worry and fear
Slowness of thought
[ more ]
Bleeding in brain
[ more ]
[ more ]
Difficulty articulating speech
[ more ]
[ more ]
Paralysis on one side of body
|Impaired visuospatial constructive cognition||0010794|
|Loss of consciousness||
[ more ]
Progressive degeneration of movement
|Recurrent subcortical infarcts||0007236|
Involuntary muscle stiffness, contraction, or spasm
|Stress urinary incontinence||0010992|
Loss of vision
[ more ]
|1%-4% of people have these symptoms|
Difficulty finding words
Loss of words
[ more ]
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the skin||0000951|
|Abnormality of visual evoked potentials||0000649|
Symptoms begin in adulthood
Intermittent migraine headaches
[ more ]
|Nonarteritic anterior ischemic optic neuropathy||0007634|
Loss of bladder control
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. Some medication that have shown some efficacy in some studies, but have not being proven may include acetazolamide, and sodium valproate for the migraine, and acetylcholinesterase inhibitor for cognitive decline.
Yearly follow up by a
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Binswanger disease, primary angiitis of the central nervous system and multiple sclerosis as well as other genetic disorders such as CARASIL, MELAS syndrome, Fabry disease and small-vessel diseases associated with COL4A1 mutations (e.g. familial porencephaly) (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on CADASIL. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss CADASIL. Click on the link to view a sample search on this topic.
- NINDS CADASIL Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2017; https://www.ninds.nih.gov/disorders/cadasil/CADASIL.htm.
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy.
- Behrouz R. CADASIL (Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy). Medscape Reference. 2017; https://emedicine.medscape.com/article/1423170.
- CADASIL. Orphanet. 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=136.
- Donato ID, Bianchi S, Stefano N & cols. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Medicine. February 24, 2017; 15:41:https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-017-0778-8#Sec14.
- Rutten J & Lesnik Oberstein SAJ. CADASIL. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK1500/.