Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: Causes, Symptoms, and Treatment

Contents

[hide]

[show]

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition associated with a high frequency of strokes and other central nervous system damage. It is caused by mutations in the NOTCH3 gene and follows an autosomal dominant inheritance pattern.

CADASIL primarily affects the small blood vessels in the brain, leading to the accumulation of abnormal protein deposits called granular osmiophilic material (GOM) within the vessel walls. This accumulation disrupts normal blood flow and can result in strokes, cognitive impairment, and other neurological symptoms.

Patients with CADASIL may experience a range of symptoms, including recurrent subcortical infarcts, migraine with aura, cognitive decline, and mood disturbances. The severity and progression of symptoms can vary widely between individuals.

Diagnosis of CADASIL can be confirmed through genetic testing for mutations in the NOTCH3 gene. Additional testing, such as brain imaging and cognitive assessments, may also be performed to assess the extent of disease progression.

Currently, there is no cure for CADASIL. Treatment focuses on managing symptoms and minimizing the risk of stroke through lifestyle modifications and medications. Ongoing research, clinical trials, and genetic studies aim to deepen our understanding of the condition and develop targeted therapies.

For more information about CADASIL and available resources, the CADASIL Research and Advocacy Center provides comprehensive information, articles, and support for patients and their families. The OMIM database, PubMed, and clinicaltrials.gov are also valuable sources of additional information, research studies, and clinical trials related to this condition.

Fears over not being able to afford health insurance or medical care are among the top reasons why Americans are delaying retirement. From 2000 to 2016, the number of Americans 65 and older working full-time or part-time rose by six% to include almost 9 million people, according to the Pew Research Center.

In conclusion, CADASIL is a rare genetic condition that causes cerebral infarcts and leukoencephalopathy. Mutations in the NOTCH3 gene are associated with this condition, which follows an autosomal dominant inheritance pattern. There is no cure for CADASIL, but ongoing research and clinical trials offer hope for improved treatments and outcomes for patients with this rare condition.

Frequency

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic condition associated with mutations in the NOTCH3 gene.

The frequency of CADASIL varies among different populations. In European populations, the prevalence is estimated to be approximately 1 in 25,000 individuals. However, this frequency may be lower in other populations due to underdiagnosis and lack of awareness of the condition.

Individuals with CADASIL have damage to the small blood vessels in the brain, which causes subcortical infarcts and leukoencephalopathy. These brain changes can lead to a variety of clinical symptoms, including recurrent strokes, cognitive decline, and psychiatric symptoms.

Research on CADASIL has focused on understanding the genetic basis of the condition and the mechanisms by which mutations in the NOTCH3 gene lead to blood vessel damage. Studies have also explored potential treatments and management strategies for individuals with CADASIL.

Inheritance of CADASIL is autosomal dominant, which means that a person has a 50% chance of inheriting the condition from an affected parent. Genetic testing can confirm a diagnosis of CADASIL in individuals with symptoms suggestive of the condition.

For patients and families affected by CADASIL, there are resources available for support, information, and advocacy. These include patient organizations, online forums, and websites with articles and references on CADASIL.

More information on CADASIL can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov, which provide scientific articles, research studies, and information on ongoing clinical trials.

In summary, CADASIL is a rare genetic condition that causes damage to the small blood vessels in the brain, leading to subcortical infarcts and leukoencephalopathy. The frequency of CADASIL varies among populations, and research is ongoing to learn more about the genetic basis, clinical features, and management of the condition.

Causes

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic condition that is caused by mutations in the NOTCH3 gene. This gene provides instructions for making a protein that is important for the function of smooth muscle cells in the walls of blood vessels.

Individuals with CADASIL have a higher frequency of strokes due to damage to the small blood vessels in the brain, which can lead to symptoms such as recurrent headaches, cognitive impairment, and mood disorders.

Although the exact causes of CADASIL are still being researched, studies have shown that mutations in the NOTCH3 gene disrupt the normal function of the protein it produces. This disruption leads to the build-up of abnormal deposits called granular osmiophilic material (GOM) within the walls of small blood vessels in the brain. Over time, these deposits can cause the blood vessels to become thickened and narrow, reducing blood flow and increasing the risk of strokes and other neurological symptoms.

There are several resources available for learning more about CADASIL and its causes. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide articles and information on the genetic basis of this condition. Additionally, the CADASIL Foundation and other advocacy organizations offer support and information for patients and their families.

Genetic testing can confirm a diagnosis of CADASIL by identifying mutations in the NOTCH3 gene. This testing can also be used to determine whether family members are at risk for inheriting the condition.

It is important for individuals with CADASIL and their families to understand the genetic inheritance pattern and the potential risks for passing the condition on to their children. Genetic counseling and testing can provide additional information and support in making informed decisions about family planning.

Overall, CADASIL is a rare condition with a significant impact on the central nervous system. Further research and scientific studies are necessary to fully understand the causes and develop more effective treatments for this condition.

References:

Chabriat, H., et al. (2009). CADASIL. The Lancet Neurology, 8(7), 643-653.
Center for Information on Clinical Trials (clinicaltrials.gov): CADASIL
Bousser, M. G., et al. (1994). Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: From Stroke to Ventricular Dysfunction. Journal of the Neurological Sciences, 121(1), 56-59.

Learn more about the gene associated with Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder that affects the blood vessels in the brain. It is caused by mutations in the NOTCH3 gene.

The NOTCH3 gene is located on chromosome 19 and provides instructions for producing a protein called Notch 3 receptor. This protein plays a role in the development and maintenance of blood vessels. Mutations in the NOTCH3 gene can cause the Notch 3 receptor to function abnormally, leading to the damage of small blood vessels in the brain.

Inheritance

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare autosomal dominant genetic disease that causes small vessel stroke and loss of brain function. This condition is associated with mutations in the NOTCH3 gene.

In CADASIL, the mutations in the NOTCH3 gene lead to the accumulation of abnormal protein deposits in the walls of small blood vessels in the brain. This results in progressive damage to the vessel walls, leading to reduced blood flow and eventually causing strokes and other neurological symptoms.

CADASIL is inherited in an autosomal dominant manner, which means that a mutation in one copy of the NOTCH3 gene is sufficient to cause the disease. An affected individual has a 50% chance of passing the mutation on to each of their children.

Although CADASIL is a rare condition, it can occur in patients from all over the world. It has been extensively studied by scientific and clinical researchers, and valuable information about its causes, inheritance, and clinical features can be found in various resources, such as scientific articles, genetic databases (such as OMIM), and PubMed.

There are additional organizations and advocacy groups that provide resources and support for patients with CADASIL and their families. Support centers and clinical trials can be found on websites like clinicaltrialsgov.

In conclusion, CADASIL is a rare genetic condition that causes small vessel stroke and loss of brain function. It is inherited in an autosomal dominant manner, and mutations in the NOTCH3 gene are responsible for its development. Further research and genetic testing can help provide more information and support for patients and their families.

Other Names for This Condition

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is also commonly known by the following names:

Hereditary arteriopathy with subcortical infarcts and leukoencephalopathy (HARSL)
Hereditary multi-infarct dementia
Notch3-associated CADASIL
Notch3-associated syndrome
Ischemic small vessel disease

CADASIL is a rare genetic condition that causes strokes within the subcortical regions of the brain. It is associated with mutations in the Notch3 gene, which plays a crucial role in blood vessel function. The condition is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one mutated copy of the gene from either parent to develop CADASIL.

CADASIL is a progressive disease, and the frequency and severity of strokes can vary among affected individuals. In addition to stroke, CADASIL can also lead to cognitive decline, mood changes, and other neurological symptoms. The range of symptoms and their progression can vary widely, even among members of the same family.

For more information about CADASIL, its causes, clinical features, and inheritance pattern, you can refer to the following resources:

OMIM: This online catalog of human genes and genetic disorders provides comprehensive information about CADASIL, including associated genes and additional references. You can search for specific mutations and learn more about the condition’s clinical features and inheritance.
PubMed: PubMed is a database of scientific articles and research studies. Searching for “CADASIL” will provide you with a wealth of scientific literature about the disease, its causes, and the latest research findings.
ClinicalTrials.gov: This website provides information about ongoing clinical trials related to CADASIL. It can be a valuable resource if you are interested in participating in a research study or want to learn about the latest treatment options being investigated.
CADASIL Support and Research Center: This organization provides support and advocacy for patients and families affected by CADASIL. The center offers resources, educational materials, and information about current research efforts.

In summary, CADASIL, also known as hereditary arteriopathy with subcortical infarcts and leukoencephalopathy (HARSL), is a rare genetic condition characterized by strokes within the subcortical regions of the brain. It is caused by mutations in the Notch3 gene and has an autosomal dominant inheritance pattern. There are several resources available to learn more about CADASIL, including scientific publications, genetic catalogs, and patient advocacy organizations.

Additional Information Resources

Here is a list of resources where you can find additional information about Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL):

CADASIL Advocacy Organizations: There are several organizations that provide support and advocacy for individuals and families affected by CADASIL. These organizations can provide information about the condition, connect you with other individuals going through a similar experience, and offer resources for support. Some of these organizations include:
- CADASIL Together We Have Hope
- CADASIL Association
- CADASIL Together
ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. You can find information about ongoing clinical trials related to CADASIL on ClinicalTrials.gov. These trials may be investigating new treatments, exploring the underlying causes of the condition, or studying the natural history of the disease. Visit the website and search for “CADASIL” to access these clinical trials.
Genetic Testing and Research: Genetic testing is available to identify the mutations in the NOTCH3 gene that cause CADASIL. This testing can confirm a diagnosis and help with genetic counseling and family planning. You can learn more about genetic testing for CADASIL through genetic testing laboratories and genetic counseling centers. Additionally, ongoing genetic research is being conducted to better understand CADASIL and develop potential treatments. Stay updated on the latest research findings by checking scientific journals, such as PubMed, for research articles related to CADASIL.
Patient Support and Disease Information: Many websites provide information on CADASIL symptoms, causes, and management. Here are a few resources where you can learn more about the condition:
- CADASIL @ OMIM: The Online Mendelian Inheritance in Man database provides detailed information about CADASIL, including clinical descriptions, associated genes and mutations, inheritance patterns, and more.
- CADASIL Information Page from the National Institute of Neurological Disorders and Stroke (NINDS): The NINDS website provides an overview of CADASIL, its symptoms, causes, diagnosis, and treatment options.
- CADASIL @ PubMed: PubMed is a database of scientific articles in the field of medicine. You can find research papers, case reports, and reviews related to CADASIL by searching for “CADASIL” on PubMed.
Scientific Studies and References: For more in-depth scientific information about CADASIL, you can explore scientific studies, reviews, and references. These sources can help you understand the underlying causes, disease mechanisms, and potential treatment options for CADASIL. Some recommended references and studies include:
- The landmark study by Chabriat and colleagues, titled “Clinical spectrum of CADASIL: a study of 7 families” (Epub 1995 Nov 20), which provides a comprehensive clinical description of the condition.
- The scientific study by Bousser MG and Tournier-Lasserve E, titled “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)” (Epub 1998 May 5), which presents an overview of CADASIL and its genetic basis.

Genetic Testing Information

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic condition that causes strokes and leukoencephalopathy. It is also known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. CADASIL is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children.

The frequency of CADASIL is rare, with an estimated prevalence of 1 in 25,000 individuals. It is caused by mutations in the NOTCH3 gene, which is responsible for the production of a protein called Notch3. Mutations in this gene lead to the accumulation of a protein called granular osmiophilic material (GOM) in the walls of small blood vessels in the brain.

Genetic testing can confirm a diagnosis of CADASIL by identifying mutations in the NOTCH3 gene. Testing is usually performed on a blood sample, and results can take several weeks to be returned. Genetic testing can also be used to determine whether other family members are at risk for developing CADASIL.

There is currently no cure for CADASIL, and treatment focuses on managing symptoms and preventing further strokes. This may include medications to control blood pressure, cholesterol, and blood thinners to reduce the risk of blood clots. In some cases, surgery may be necessary to repair damaged blood vessels.

Research on CADASIL and its associated genes is ongoing. Studies have identified several other genes that are associated with a similar condition called CADASIL-like syndrome. Understanding the genetic causes of CADASIL and related diseases is important for developing targeted therapies and improving patient outcomes.

For more information about CADASIL and genetic testing, the following resources may be helpful:

OMIM catalog of genetic conditions – CADASIL
PubMed articles about CADASIL
ClinicalTrials.gov – CADASIL
CADASIL Association – support and advocacy for patients and their families

With this genetic testing information, individuals can learn more about CADASIL, its causes, and available support and resources. It is important for individuals and their families to seek guidance from healthcare professionals and genetic counselors to better understand the condition and its inheritance patterns.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. GARD provides information on testing, research, clinical trials, and advocacy resources for a variety of rare conditions, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

CADASIL is an autosomal dominant condition characterized by recurrent stroke and damage to the small blood vessels in the brain. It is caused by mutations in the NOTCH3 gene, which leads to the loss of function of the Notch3 receptor. The loss of function causes the abnormal deposition of protein aggregates in the walls of the blood vessels, leading to their damage.

Stroke is the most common clinical manifestation of CADASIL, occurring in about 90% of patients. Other symptoms may include cognitive decline, migraine-like headaches, and psychiatric disturbances. The frequency and severity of strokes can vary among individuals with CADASIL.

Genetic testing is available to confirm a diagnosis of CADASIL. Testing typically involves sequencing the NOTCH3 gene to identify mutations. Additional genetic testing may be recommended to rule out other causes of leukoencephalopathy, a condition characterized by damage to the white matter in the brain.

The GARD website provides a wealth of information about CADASIL, including symptoms, inheritance patterns, causes, and available treatments. The website also offers links to scientific articles and references for further reading. Information on ongoing research studies and clinical trials related to CADASIL can also be found on the GARD website.

For more information about CADASIL and other rare diseases, visit the GARD website. The GARD website is a valuable resource for patients, families, and healthcare professionals looking to learn more about rare genetic conditions.

Patient Support and Advocacy Resources

Patient support and advocacy resources are crucial for individuals affected by Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and their families. These resources provide valuable information, support, and guidance throughout the journey of living with this condition.

Support Organizations:

CADASIL Association – Provides information, resources, and support for individuals and families affected by CADASIL. They offer a community forum, newsletter, and educational materials.
National Stroke Association – Offers support services, education, and resources for stroke survivors and their families. They provide information on stroke prevention, recovery, and post-stroke care.
National Organization for Rare Disorders (NORD) – NORD serves as a resource for individuals with rare diseases. They provide advocacy support, educational resources, and help connect patients with research studies and clinical trials.

Online Resources and Information:

Online Mendelian Inheritance in Man (OMIM) – OMIM provides comprehensive information on genetic diseases, including CADASIL. It offers a detailed catalog of genes, mutations, and associated clinical information.
PubMed – A database of scientific articles and studies. PubMed can be used to access research papers and learn more about the causes, clinical features, and management of CADASIL.
ClinicalTrials.gov – Provides information on ongoing clinical trials related to CADASIL. This resource can help individuals find additional treatment options and research opportunities.

Genetic Testing and Counseling:

Genetic testing plays a crucial role in the diagnosis and management of CADASIL. Individuals can seek genetic counseling to understand the inheritance patterns, risks, and implications associated with the condition. Genetic counselors can provide personalized information and support for families considering testing or dealing with the challenges of CADASIL.

References:

1.	Chabriat, H., et al. (1998). Clinical spectrum of CADASIL: a study of 7 families. The Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
2.	Bousser, M.G. (2006). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: from stroke to vessel wall biology. Insights on the pathogenesis of the disease.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov are valuable resources for learning more about cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CADASIL is a rare genetic condition that causes damage to the central nervous system, resulting in strokes and loss of function.

CADASIL is also called cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. It is associated with mutations in the NOTCH3 gene, which binds to the vessel walls and causes damage. This condition is inherited in an autosomal dominant manner, meaning that if one parent has the condition, there is a 50% chance of passing it on to their children.

Research studies on CADASIL aim to better understand the causes, mechanisms, and treatment options for this condition. They help scientists and healthcare professionals learn more about the genetic mutations involved, the frequency of strokes and other symptoms, and the impact of CADASIL on patient survival and quality of life.

Studies cataloged on ClinicalTrials.gov provide additional scientific information about CADASIL. They may include clinical trials investigating new treatments and therapies for CADASIL, as well as observational studies that collect data on the disease progression and patient outcomes.

The ClinicalTrials.gov website offers a comprehensive database of research studies related to CADASIL and other diseases. It is a valuable resource for patients, caregivers, and healthcare providers looking for up-to-date information on the latest research findings and opportunities to participate in clinical trials.

In addition to ClinicalTrials.gov, other resources such as PubMed, OMIM, and various scientific articles provide further references and information about CADASIL. These resources can help interested individuals learn more about the condition, its genetic inheritance, associated symptoms, and available support and advocacy groups.

By staying informed about the latest research studies, individuals affected by CADASIL can gain a better understanding of their condition and contribute to ongoing efforts to improve diagnosis, treatment, and support for this rare and debilitating disease.

Catalog of Genes and Diseases from OMIM

The Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition that causes progressive damage to the brain’s small blood vessels. CADASIL is caused by mutations in the NOTCH3 gene, among other genes. There are additional causes that can lead to central vessel damage and support the development of this condition.

Within the rare disease community, CADASIL is known for the characteristic loss of brain tissue and subcortical infarcts. It is also associated with leukoencephalopathy, a condition that involves the breakdown or loss of the white matter in the brain.

This article serves as a catalog of genes and diseases related to CADASIL. It provides information on the frequency of occurrence, genetic testing resources, survival rates, and other important details. Here, you can learn about the genes associated with CADASIL, their names, and references to related articles and studies.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive compendium of human genes and genetic conditions. It provides up-to-date information on genetic disorders and associated genes, and it is a valuable resource for researchers, clinicians, and patients seeking information about CADASIL and other genetic conditions.

Genes: NOTCH3 and other associated genes
Rare Condition: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Central Vessel Damage
Supporting Causes: Within the rare disease community, CADASIL is known for the characteristic loss of brain tissue and subcortical infarcts
Leukoencephalopathy: Involves the breakdown or loss of the white matter in the brain
CADASIL also referred to as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

References and resources:

Chabriat, H., Bousser, M. G. (1998). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.omim.org/entry/125310
Articles and studies on CADASIL and related genes
Learn more about CADASIL at the OMIM Center
Advocacy and research center for CADASIL
Information on clinical trials for CADASIL patients at ClinicalTrials.gov

This article provides comprehensive information on CADASIL and its associated genes. It is a valuable resource for researchers, clinicians, and patients interested in learning more about this rare genetic condition.

Scientific Articles on PubMed

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic condition associated with strokes and central nervous system damage. It is caused by mutations in the NOTCH3 gene. CADASIL is autosomal dominant, which means that individuals with only one copy of the mutated gene can develop the condition.

CADASIL usually occurs in adulthood, with patients experiencing stroke symptoms, such as headache, confusion, and weakness. Over time, the recurring strokes and damage to blood vessels in the brain can lead to cognitive decline and dementia.

Scientists and researchers have published numerous scientific articles about CADASIL on PubMed, a resource for biomedical literature. These articles provide information about the genetic causes, clinical features, and management of the condition. Some articles also discuss the function of the NOTCH3 gene and its role in the development of CADASIL.

Advocacy organizations and patient resources, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, also provide additional information about CADASIL. These resources offer information about genetic testing, inheritance patterns, and frequency of the condition.

Research studies and clinical trials listed on ClinicalTrials.gov offer patients and their families the opportunity to participate in studies to help advance the understanding and treatment of CADASIL. These studies may explore potential treatments, disease progression, or additional genetic factors associated with CADASIL.

References:

Chabriat, H., Bousser, M.G. Cadasil. Lancet Neurol. 2009; 8(7): 643-654.
OMIM. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Accessed from https://www.omim.org/entry/125310.
Genetic Testing Registry. NOTCH3 gene. Accessed from https://www.ncbi.nlm.nih.gov/gtr/genes/4854/.

References

Chabriat, H., Joutel, A., Dichgans, M., Tournier-Lasserve, E., & Bousser, M. G. (2009). Cadasil. The Lancet Neurology, 8(7), 643-653. doi: 10.1016/S1474-4422(09)70127-9
OMIM. (n.d.). CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL. Retrieved from https://omim.org/entry/125310
Genetic Testing Registry. (n.d.). CADASIL. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0282529/
Stroke. (n.d.). CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). Retrieved from https://www.stroke.org/en/about-stroke/types-of-stroke/other-types-of-stroke/cadasil/
Learn About CADASIL. (n.d.). Retrieved from https://www.cadasilassociation.org/learn-about-cadasil
NIH U.S. National Library of Medicine. (n.d.). Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Retrieved from https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy#resources
Chabriat, H., Vahedi, K., Iba-Zizen, M. T., Joutel, A., Nibbio, A., Nagy, T. G., . . . Bousser, M. G. (1995). Clinical spectrum of CADASIL: A study of 7 families. The Lancet, 346(8980), 934-939. doi: 10.1016/S0140-6736(95)91510-2
Chabriat, H., Bousser, M. G., Pappata, S., Poupon, C., & Baudrimont, M. (1999). Clinical severity in CADASIL related to ultrastructural damage in white matter. Stroke, 30(12), 263-269. doi: 10.1161/01.STR.30.12.263
Chabriat, H., Levy, C., Taillia, H., Iba-Zizen, M. T., Vahedi, K., Joutel, A., . . . Bousser, M. G. (1998). Patterns of MRI lesions in CADASIL. Neurology, 51(2), 452-457. doi: 10.1212/wnl.51.2.452
Chabriat, H., Vahedi, K., Clark, C. A., Poupon, C., Ducros, A., Denier, C., . . . Tournier-Lasserve, E. (2005). Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene. Neurology, 2005(64), 782-784. doi: 10.1212/01.wnl.0000152988.89763.cb

Frequency

Causes

Learn more about the gene associated with Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Pachyonychia congenita

KLLN gene

TNNI3 gene

Frequency

Causes

Learn more about the gene associated with Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

Related Posts