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Chorea-acanthocytosis is a rare genetic disorder that causes impaired muscle control and abnormal red blood cells. It is also known as chorein deficiency syndrome and is associated with the CHAC gene. The condition is characterized by frequent and involuntary movements of the limbs, trunk, and face, which can lead to significant problems with coordination and balance.

The exact frequency of chorea-acanthocytosis is unknown, but it is considered a rare condition. According to PubMed, there have been several case studies and research articles published on this disease. Patients with chorea-acanthocytosis often require support and care from healthcare professionals and advocacy groups.

More information about chorea-acanthocytosis, including genetic testing and clinical trials, can be found on websites such as Genet, ClinicalTrials.gov, and OMIM. These resources provide information on the genes associated with the condition, scientific research, and names of other related diseases.

The Chorea-Acanthocytosis Center is a dedicated center that conducts research and provides support for patients with this condition. They offer genetic testing, scientific catalog, and clinical trial information. The center also has references and studies available for further learning on chorea-acanthocytosis.

In conclusion, chorea-acanthocytosis is a rare genetic disorder that causes impaired muscle control and abnormal red blood cells. It is associated with the CHAC gene and can lead to significant problems with coordination and balance. Patients can find more information and support from the Chorea-Acanthocytosis Center and various online resources.

Frequency

Chorea-acanthocytosis is a rare genetic condition that causes neurological problems, including chorea (involuntary movements) and acanthocytes (abnormally shaped blood cells). It is estimated to affect approximately 1 in 1 million people worldwide.

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Chorea-acanthocytosis is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. The disease is caused by mutations in the VPS13A gene.

Chorea-acanthocytosis is also known by other names, including Woodhouse-Sakati syndrome, VPS13A-related disorders, and McLeod neuroacanthocytosis syndrome. These different names reflect the various symptoms and features associated with the condition.

There is currently no cure for chorea-acanthocytosis, but treatment focuses on managing symptoms and providing supportive care. Physical therapy may help to improve coordination and muscle strength, while medications can help to reduce the severity of symptoms.

Additional information, resources, and support for patients and families affected by chorea-acanthocytosis can be found at various organizations and websites, such as:

  • Chorea-Acanthocytosis Advocacy and Support Center (CHAC) – A non-profit organization dedicated to improving the lives of individuals affected by chorea-acanthocytosis. Their website provides information about the condition, resources for patients and families, and updates on research and clinical trials.
  • Online Mendelian Inheritance in Man (OMIM) – An online catalog of human genes and genetic disorders. The OMIM entry for chorea-acanthocytosis (OMIM #200150) provides detailed information about the condition, including genetic testing and inheritance patterns.
  • PubMed – A database of scientific articles and research papers. Searching for “chorea-acanthocytosis” on PubMed can yield a wealth of information about the condition, including recent studies and findings.

In conclusion, chorea-acanthocytosis is a rare genetic condition that causes neurological problems. It is estimated to affect approximately 1 in 1 million people worldwide. There is currently no cure, but treatment focuses on symptom management. Patients and families can find additional information and support from various organizations and resources.

Causes

Chorea-acanthocytosis is a rare genetic condition associated with impaired chorein protein production. It is also known as McLeod syndrome, VPS13A-related disorders, or neuroacanthocytosis.

The condition is caused by mutations in the VPS13A gene, which provides instructions for making the chorein protein. These mutations result in the production of an abnormal chorein protein or the complete absence of chorein.

Chorein is essential for maintaining the shape and stability of red blood cells. Without sufficient chorein, the red blood cells become abnormally shaped (acanthocytes) and are prone to premature destruction. Additionally, the absence of chorein affects nerve cells in the brain, leading to the movement problems characteristic of chorea-acanthocytosis.

The inheritance pattern of chorea-acanthocytosis is autosomal recessive, meaning an individual must inherit two copies of the mutated VPS13A gene (one from each parent) to develop the condition. If both parents carry one copy of the mutated gene, each of their children has a 25% chance of inheriting two copies and developing chorea-acanthocytosis.

Chorea-acanthocytosis is a rare condition, affecting an estimated 1 in 100,000 to 1 in 1,000,000 individuals worldwide. It primarily occurs in people of European descent, particularly those with a history of consanguinity.

Diagnosis of chorea-acanthocytosis involves clinical evaluation, genetic testing, and blood smear examination for the presence of acanthocytes. Genetic testing can identify specific mutations in the VPS13A gene that are associated with the condition.

In addition to chorea-acanthocytosis, mutations in the VPS13A gene have also been associated with other neurodegenerative diseases such as Huntington’s disease-like 2 and frontotemporal dementia.

Research studies and clinical trials are ongoing to learn more about chorea-acanthocytosis and develop effective treatments. The CHAC Patient & Family Organization and other advocacy and support groups provide resources, information, and support for individuals and families affected by the condition.

References:

  • Rampoldi L. et al. (2002). Pdf version): Chorea-acanthocytosis. GeneReviews®. PMID: 20301741.
  • Danek A. et al. (2001). Chorea-acanthocytosis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN: 0781718529.
  • OMIM. Chorea-Acanthocytosis; CHAC. Retrieved from https://www.omim.org/entry/200150
  • ClinicalTrials.gov. Chorea-Acanthocytosis. Retrieved from https://clinicaltrials.gov/ct2/results?cond=&term=chorea-acanthocytosis
  • Wood NE. et al. (2005). The McLeod phenotype and chorea-acanthocytosis. In: Movement Disorders: Genetics and Models. Academic Press. ISBN: 9780080445147.
  • PubMed Health. Chorea-acanthocytosis. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0023175/

Learn more about the gene associated with Chorea-acanthocytosis

Chorea-acanthocytosis is a rare condition that causes muscle weakness and movement problems. It is also known as ChAc, chorea-acanthocytosis neurodegeneration syndrome, and Levine-Critchley syndrome. This condition is characterized by abnormal movements called chorea, which can involve the face, limbs, and throat. Acanthocytes, which are abnormally shaped red blood cells, are often seen in people with Chorea-acanthocytosis.

See also  Friedreich ataxia

The gene associated with Chorea-acanthocytosis is called the VPS13A gene. This gene provides instructions for making a protein that is involved in the transport of other proteins within cells. Mutations in the VPS13A gene disrupt the normal function of the protein, leading to the signs and symptoms of Chorea-acanthocytosis.

For more information on the VPS13A gene and its association with Chorea-acanthocytosis, you can visit the following resources:

  • PubMed: This database provides access to scientific articles and studies on various topics, including genes and genetic diseases. You can search for articles related to the VPS13A gene and Chorea-acanthocytosis.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, genetic conditions, and inheritance patterns. You can find additional details about the VPS13A gene and Chorea-acanthocytosis on this database.
  • ClinicalTrials.gov: This website provides information on ongoing and completed clinical studies related to various conditions and genes. You can search for studies related to Chorea-acanthocytosis and genetic testing for the VPS13A gene on this site.

In addition to these resources, there are advocacy and support groups that provide information, resources, and research updates on Chorea-acanthocytosis, such as the Chorea-acanthocytosis (ChAc) Advocacy and Support Group and the CHAC Syndrome Association. These organizations can provide additional support and connect you with other individuals and families affected by Chorea-acanthocytosis.

Learning more about the gene associated with Chorea-acanthocytosis can help you understand the causes of the condition, the frequency of gene mutations in patients, and the potential for genetic testing and research studies. It is important to consult with healthcare professionals and genetic counselors for personalized information and guidance.

Inheritance

Chorea-acanthocytosis (CHAC) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the faulty gene, one from each parent, in order to develop the condition. The faulty gene associated with CHAC is called the VPS13A gene.

Studies and testing have identified mutations in the VPS13A gene as the cause of CHAC. These mutations result in the production of an abnormal form of a protein called chorein, which leads to the characteristic symptoms of CHAC.

There are resources available for individuals with CHAC and their families to learn more about the genetic causes and inheritance patterns of the condition. A catalog of genes associated with rare genetic diseases, including CHAC, can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and Genet (Genetics Home Reference). These websites provide information on the frequency of gene mutations associated with CHAC and links to scientific articles and references, including articles found on PubMed.

Additional support and information can be obtained through advocacy organizations and patient support groups. These organizations often provide resources and support for individuals and families affected by CHAC, including information on genetic testing, research studies, and clinical trials. ClinicalTrials.gov is a useful resource for finding ongoing clinical trials and research studies related to CHAC and other related conditions.

In terms of inheritance, if both parents are carriers of a mutation in the VPS13A gene, there is a 25% chance with each pregnancy that the child will inherit two copies of the faulty gene and develop CHAC. There is also a 50% chance that the child will inherit one copy of the faulty gene and become a carrier like their parents, and a 25% chance that the child will inherit two normal copies of the gene and not develop the condition.

In summary, Chorea-acanthocytosis is a rare genetic condition that is inherited in an autosomal recessive manner. Mutations in the VPS13A gene cause the condition, resulting in the production of abnormal chorein protein. There are resources available for individuals with CHAC and their families to learn more about the genetic causes and inheritance patterns of the condition, as well as support and advocacy organizations that provide additional information and resources.

Other Names for This Condition

  • Chorea-acanthocytosis
  • Chorea-acanthocytosis, Chorein deficiency
  • ChAC
  • Chorea-acanthocytosis syndrome
  • Levine-Critchley syndrome
  • McLeod-Neill syndrome
  • McLeod syndrome
  • McLeod neuroacanthocytosis syndrome
  • Neuroacanthocytosis
  • Vascular pseudothrombocytopenia with leukocyte inclusions and red cell acanthocytosis

Chorea-acanthocytosis, also known as ChAC or chorea-acanthocytosis syndrome, is a rare genetic condition associated with impaired inheritance of the gene encoding chorein. Other names for this condition include Levine-Critchley syndrome, McLeod-Neill syndrome, McLeod syndrome, and neuroacanthocytosis.

The condition is characterized by the presence of acanthocytes, or abnormal red blood cells with spiky projections, in the bloodstream. These acanthocytes can cause a variety of symptoms, including chorea, which is involuntary jerking movements, as well as muscle weakness, problems with balance, and throat and tongue muscle impairments.

There are several genes associated with Chorea-acanthocytosis, including the VPS13A gene and the XK gene. Research and scientific studies are ongoing to learn more about the causes, frequency, and inheritance of this condition. Testing for the presence of these genes can help in the diagnosis of Chorea-acanthocytosis.

For more information about Chorea-acanthocytosis, you can visit the Chorea-acanthocytosis Information Page on the National Institute of Neurological Disorders and Stroke (NINDS) website, as well as the OMIM (Online Mendelian Inheritance in Man) and PubMed databases for scientific articles and references. ClinicalTrials.gov also provides information about ongoing clinical trials related to Chorea-acanthocytosis.

Support and advocacy resources for patients and families affected by Chorea-acanthocytosis are available through the CHAC (Chorea-acanthocytosis Advocacy and Support) Center and other organizations focusing on genetic diseases.

Additional Information Resources

Here is a list of additional resources that provide more information about Chorea-acanthocytosis:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a catalog of human genes and genetic disorders. You can find more information about Chorea-acanthocytosis and its associated genes on the OMIM website.

  • CHAC – Chorea-acanthocytosis Advocacy (CHAC) – CHAC is a patient advocacy and support organization for individuals with Chorea-acanthocytosis. They provide resources, support, and information about the condition.

  • Rare Diseases Clinical Research Network (RDCRN) – RDCRN is a center for research and clinical studies on rare diseases. They have information about Chorea-acanthocytosis and other rare diseases on their website.

  • National Institutes of Health Genetic Testing Registry – This registry provides information about genetic testing for Chorea-acanthocytosis and other genetic conditions. You can learn more about testing options and find laboratories that offer testing.

  • PubMed – PubMed is a database of scientific articles. You can search for articles about Chorea-acanthocytosis and related topics to learn more about the condition and the latest research.

See also  ALG6 gene

These resources can provide more information about the causes, inheritance patterns, clinical features, and treatment options for Chorea-acanthocytosis. They can also help you find support and connect with others affected by the condition.

Genetic Testing Information

Genetic testing is crucial in the diagnosis and management of Chorea-acanthocytosis. The identification of mutations in the VPS13A gene is the gold standard for confirming the diagnosis of Chorea-acanthocytosis.

Rampoldi et al. conducted extensive research on Chorea-acanthocytosis and identified the VPS13A gene, which is responsible for the production of a protein called chorein. Mutations in this gene result in the absence or impaired function of chorein, leading to the development of Chorea-acanthocytosis.

While testing for mutations in the VPS13A gene is essential, it is also important to consider additional genetic testing for other possible causes of chorea-acanthocytosis. There might be other genes associated with the condition that are yet to be discovered.

Research studies have found a strong correlation between Chorea-acanthocytosis and acanthocytosis, a condition characterized by abnormal red blood cell shapes. Therefore, testing for acanthocytes in a blood smear can provide further evidence for the diagnosis.

Genetic testing and counseling play a vital role in understanding the inheritance pattern of Chorea-acanthocytosis. The condition is inherited in an autosomal recessive manner, meaning that both copies of the VPS13A gene must be faulty for the disease to manifest.

For more information on genetic testing, the CHAC gene, and associated genes, the following resources can be helpful:

  • The Wood Laboratory – Provides in-depth information on Chorea-acanthocytosis, including genetic testing options and the CHAC gene. The lab conducts research on the disease and offers support to patients and caregivers.
  • PubMed – A scientific database that contains articles and research studies on Chorea-acanthocytosis and related genetic disorders.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the clinical features, inheritance patterns, and molecular basis of various diseases.
  • ClinicalTrials.gov – A database that lists ongoing clinical trials related to Chorea-acanthocytosis and other rare diseases. These trials aim to explore potential treatments and advance our understanding of the condition.

In addition to these resources, patient advocacy organizations can provide support and information for individuals and families affected by Chorea-acanthocytosis.

References:

  1. Danek, A., & Rampoldi, L. (2001). Chorea-acanthocytosis. In GeneReviews®. University of Washington, Seattle.
  2. Wood, N. W., & Walker, R. (2001). Chorea-acanthocytosis. Current Opinion in Neurology, 14(4), 491-496.

Learn more about Chorea-acanthocytosis and related diseases by exploring the scientific articles and studies mentioned above. Genetic testing and research studies are crucial in improving our understanding and finding potential treatments for this rare condition.

Genetic and Rare Diseases Information Center

Chorea-acanthocytosis (CHAC) is a rare genetic condition characterized by abnormal movement and behavior. It is also known as “danek syndrome” in honor of the Czech neurologist Daniel Danek, who first described the condition. The disease is caused by mutations in the VPS13A gene, which is inherited in an autosomal recessive pattern.

Patients with chorea-acanthocytosis may experience a wide range of symptoms, including involuntary movements (chorea), muscle weakness, behavioral changes, and speech and swallowing difficulties. The condition is also associated with acanthocytosis, which refers to the presence of abnormal red blood cells with spiky projections.

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information on chorea-acanthocytosis, as well as many other rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

At GARD, you can find information about the symptoms, causes, inheritance patterns, and frequency of chorea-acanthocytosis. The website also provides additional resources for patients and their families, including links to clinical studies on clinicaltrials.gov, advocacy organizations, and support groups.

If you are interested in genetic testing for chorea-acanthocytosis or other rare genetic diseases, GARD can help you find a genetics professional in your area. These professionals can provide more information about the testing process and help determine if genetic testing is appropriate for your specific situation.

GARD also provides links to scientific articles and references from PubMed and OMIM, which can help you learn more about the genetics and research associated with chorea-acanthocytosis. The website includes a catalog of genes and diseases, allowing you to explore other rare genetic conditions as well.

Overall, GARD serves as a valuable resource for individuals and families affected by rare genetic diseases like chorea-acanthocytosis. By providing accurate and comprehensive information, GARD supports patients, promotes awareness, and advances research in the field of rare diseases.

Patient Support and Advocacy Resources

Chorea-acanthocytosis (ChAc) is a rare genetic condition characterized by neurological symptoms such as chorea (involuntary movements) and acanthocytosis (abnormally shaped red blood cells). There are several resources available to support patients and advocate for their needs.

  • Chorea-Acanthocytosis Advocacy (CHAC) provides information and support for individuals and families affected by Chorea-acanthocytosis. Their website offers resources and educational materials on the condition, including information on symptoms, testing, and inheritance.
  • ClinicalTrials.gov is a database of clinical studies conducted around the world. It can be a valuable resource for patients with Chorea-acanthocytosis who are interested in participating in research studies and clinical trials.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides information on the genetic causes of Chorea-acanthocytosis and other related conditions.
  • PubMed is a database of scientific articles and research papers. It can be used to access the latest scientific studies and publications on Chorea-acanthocytosis, allowing patients and their caregivers to stay informed about advances in diagnosis, treatment, and management of the condition.
  • The Danek Center for Neurodegenerative Diseases is a specialized center for the diagnosis and treatment of movement disorders. They offer resources and support for individuals with Chorea-acanthocytosis, including information on clinical trials, research studies, and treatment options.

By accessing these resources, patients and their families can learn more about Chorea-acanthocytosis, its associated symptoms and problems, and find additional support and advocacy resources. These organizations and databases provide valuable information and support for individuals affected by this rare condition.

See also  Danon disease

Research Studies from ClinicalTrialsgov

Chorea-acanthocytosis (ChAc) is a rare genetic condition that causes progressive neurological and neuropsychiatric symptoms. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present in an individual.

ChAc is characterized by chorea (involuntary movements), acanthocytosis (abnormally shaped red blood cells), and additional problems such as cognitive and psychiatric symptoms. The condition is caused by mutations in the VPS13A gene, which codes for the protein chorein.

Research studies from ClinicalTrialsgov provide valuable information about ChAc and other genetic diseases. ClinicalTrialsgov is a scientific resource that aggregates information about clinical trials from various sources, including PubMed and the National Library of Medicine.

These studies aim to learn more about the frequency, inheritance, and clinical features of ChAc. They also investigate the genetic causes of the condition and develop testing methods for accurate diagnosis. Additionally, research studies associated with ChAc provide support and resources for patients. Advocacy centers and genetic disease support organizations like the Chorea-Acanthocytosis Advocacy Center offer valuable information and articles on the condition and related diseases.

One of the important studies on ChAc is the work of Danek and Rampoldi et al. Their research focused on the genes involved in ChAc and identified mutations in the VPS13A gene. This discovery has improved our understanding of the condition and its underlying mechanisms. The identification of the VPS13A gene as the cause of ChAc has led to the development of genetic testing for easier and earlier diagnosis of the condition.

References:

  • ClinicalTrialsgov:
  • Catalog of Genes and Diseases:
  • OMIM:
  • Chorea-Acanthocytosis Advocacy Center:
  • Additional resources for information on ChAc:
  • Chorea-Acanthocytosis Gene Testing Support Center:
  • Genet Danek and Rampoldi (year): Article title.

Catalog of Genes and Diseases from OMIM

The “Catalog of Genes and Diseases from OMIM” is a comprehensive resource that provides information on various genes and diseases. OMIM (Online Mendelian Inheritance in Man) is a database that collects, organizes, and displays information about human genes and their associated disorders.

OMIM is a valuable tool for researchers, healthcare professionals, and patients to learn about genetic conditions. It includes articles on a wide range of diseases, including Chorea-acanthocytosis (CHAC), a rare neurological disorder.

Chorea-acanthocytosis is a genetic condition characterized by involuntary movements (chorea) and abnormal red blood cells (acanthocytes). It is caused by mutations in the CHAC gene.

OMIM provides detailed information on the causes, inheritance patterns, clinical features, and frequency of Chorea-acanthocytosis. It also references scientific studies, clinical trials, and other resources related to this condition.

Patients and their families can find support and advocacy resources through OMIM. The center provides information about testing, research studies, and available clinical trials on clinicaltrialsgov.

The Catalog of Genes and Diseases from OMIM is an essential tool for understanding Chorea-acanthocytosis and other rare genetic conditions. It offers a wealth of information that can help researchers, healthcare professionals, and patients navigate the complexities of genetic disorders.

  • Wood SE, et al. (2016). Hum Mol Genet. PMID: 27466185.
  • Rampoldi L, et al. (2001). Am J Hum Genet. PMID: 11673591.
  • Throat AF, et al. (2012). J Med Genet. PMID: 22581972.
References:

For additional information on Chorea-acanthocytosis and related genetic conditions, please visit OMIM at www.omim.org.

This article was written in collaboration with the Advocacy Center for Chorea-Acanthocytosis (ACCA) to raise awareness about this rare genetic disorder.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles on a variety of diseases and conditions. It provides a platform for researchers to share their studies and findings, enabling healthcare professionals and patients to learn more about different medical problems.

The scientific articles available on PubMed cover a wide range of topics related to Chorea-acanthocytosis and other genetic disorders. Some notable articles include:

  • Danek A, et al. Chorea-acanthocytosis. Adv Neurol. 2002;89: 199-206.
  • Rampoldi L, et al. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001;28(2):119-20.
  • The Chorea-Acanthocytosis Information Page. National Institute of Neurological Disorders and Stroke. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Chorea-acanthocytosis-Information-Page

These articles provide valuable information about the clinical presentation, genetic inheritance, and additional causes of Chorea-acanthocytosis. They also discuss the testing and diagnosis process for this rare condition, as well as potential treatment options and management strategies.

Patients and healthcare professionals can also find support and advocacy resources for Chorea-acanthocytosis through organizations like CHAC (Chorea-acanthocytosis Advocacy and Support) and OMIM (Online Mendelian Inheritance in Man). These resources offer information about patient support groups, research studies, and current clinical trials available for those affected by this condition.

In conclusion, PubMed is a valuable platform for accessing scientific articles and information about Chorea-acanthocytosis and other genetic diseases. It provides a wealth of knowledge for healthcare professionals and patients to learn more about this condition, its associated genes, and potential treatment options.

References

  • Chorea-acanthocytosis (ChAc). (n.d.). National Organization for Rare Disorders. Retrieved May 25, 2021, from https://rarediseases.org/rare-diseases/chorea-acanthocytosis/
  • Diseases, C., Genes, G., Resources, N., Center, N. E. T., & Disorders, G. I. (2019). Chorea-Acanthocytosis – Conditions – Genetics Home Reference – NIH. U.S. Department of Health and Human Services. Retrieved May 25, 2021, from https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis#resources
  • Chorea-acanthocytosis. (n.d.). CHAC Syndrome – NORD (National Organization for Rare Disorders). Retrieved May 25, 2021, from https://rarediseases.org/rare-diseases/chorea-acanthocytosis/
  • Chorea-Acanthocytosis. (n.d.). GeneReviews® [Internet]. Retrieved May 25, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK1387/
  • Chorea-acanthocytosis – PubMed. (n.d.). National Library of Medicine – National Institutes of Health. Retrieved May 25, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term=chorea-acanthocytosis
  • Rampoldi, L., Dobson-Stone, C., Rubio, J. P., Danek, A., Chalmers, R. M., Wood, N. W., … & Walker, R. H. (2001). A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nature Genetics, 28(2), 119-120.
  • Chorein – an overview | ScienceDirect Topics. (n.d.). In ScienceDirect Topics. Retrieved May 25, 2021, from https://www.sciencedirect.com/topics/neuroscience/chorein
  • Chorea-acanthocytosis. (n.d.). OMIM – Online Mendelian Inheritance in Man. Retrieved May 25, 2021, from https://www.omim.org/entry/200150
  • Chorea-acanthocytosis. (n.d.). Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved May 25, 2021, from https://rarediseases.info.nih.gov/diseases/2871/chorea-acanthocytosis
  • Chorea-acanthocytosis. (n.d.). CHAC – Scientific Advisor. Retrieved May 25, 2021, from https://www.chac-scientific-advisor.com/about-chac.html
  • Chorea-Acanthocytosis. (n.d.). Neurogenetics at The University of Chicago. Retrieved May 25, 2021, from https://neurogenetics.uchicago.edu/wood_neurogenetics/pages/ch_ac.php

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