Rare Immunology News
Advertisement
Disease Profile
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
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.
Unknown
Age of onset
Adolescent
ICD-10
F01.1
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
CARASIL; Maeda syndrome; Subcortical vascular encephalopathy, progressive;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Cerebral
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
5%-29% of people have these symptoms | ||
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of extrapyramidal motor function | 0002071 | |
Alopecia |
Hair loss
|
0001596 |
Arteriosclerosis of small cerebral arteries | 0004931 | |
0001251 | ||
0000007 | ||
Babinski sign | 0003487 | |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
Diffuse demyelination of the cerebral white matter | 0007162 | |
Diffuse white matter abnormalities | 0007204 | |
Difficulty articulating speech
|
0001260 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Leukoencephalopathy | 0002352 | |
Low back pain | 0003419 | |
Progressive |
0002448 | |
Pseudobulbar signs | 0002200 | |
Rigidity |
Muscle rigidity
|
0002063 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Stroke | 0001297 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Diagnosis
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.
Testing Resources
- 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.
Related diseases
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 primary angiitis of the central nervous system, Binswanger disease, CADASIL, Nasu-Hakola disease, chronic progressive multiple sclerosis and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (see these terms). As Hutchinson-Gilford progeria syndrome and Werner syndrome (see these terms) also feature premature baldness and arteriosclerosis, they must also be excluded.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: [email protected]
Website: https://americanhairloss.org
Organizations Providing General Support
-
Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: [email protected]
Website: https://www.alextlc.org -
United Leukodystrophy Foundation (ULF)
224 North Second Street
Suite 2
DeKalb, IL 60115
Toll-free: 1-800-728-5483
Telephone: +1-815-748-3211
Fax: +1-815-748-0844
E-mail: [email protected]
Website: https://ulf.org/
Learn more
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.
Where to Start
- MedlinePlus Genetics contains information on Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. This website is maintained by the National Library of Medicine.
- 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.
In-Depth Information
- 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.
- 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 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Click on the link to view a sample search on this topic.
References
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. Genetics Home Reference (GHR). April 2011; https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy.
- Onodera O. CARASIL. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/carasil/.
- Onodera O, Nozaki H, Fukutake T. CARASIL. GeneReviews. September 11, 2014; https://www.ncbi.nlm.nih.gov/books/NBK32533/.