Ataxia with oculomotor apraxia is a rare genetic condition characterized by the impairment of coordination and balance, as well as the inability to control eye movements (oculomotor apraxia). It is thought to be caused by mutations in certain genes, such as APTX, XRCC1, and SETX. These genes are associated with the repair and maintenance of DNA in cells, and their mutations lead to the accumulation of abnormalities in the genetic material.

The clinical presentation of ataxia with oculomotor apraxia may vary among individuals, but common symptoms include unsteady gait, poor coordination of movements, muscle weakness, and difficulty with fine motor skills. Some patients may also experience myoclonus, which is the involuntary jerking of muscles.

Diagnosis of ataxia with oculomotor apraxia typically involves neurological examinations, genetic testing, and imaging studies. The condition can be inherited in an autosomal recessive manner, meaning that both copies of the responsible gene must be mutated for the condition to manifest. However, there are rare cases in which ataxia with oculomotor apraxia is inherited in an autosomal dominant manner, with only one copy of the mutated gene required for symptoms to occur.

Treatment for ataxia with oculomotor apraxia focuses on managing symptoms and supportive care. Physical and occupational therapy can help improve motor skills and maximize independence. Additionally, medications may be prescribed to alleviate specific symptoms, such as myoclonus.

Although ataxia with oculomotor apraxia is a rare condition, there are resources available to support patients and their families. The Ataxia-Oculomotor Apraxia Genetic Counseling and Testing Registry provides information on associated genes and inheritance patterns. The National Ataxia Foundation offers advocacy, support, and resources for individuals with ataxia and their families. Scientific articles about the condition can be found in databases such as PubMed and OMIM, providing additional information on research and clinical trials.

In summary, ataxia with oculomotor apraxia is a rare genetic condition characterized by the impairment of coordination, balance, and eye movements. It is caused by mutations in certain genes associated with DNA repair and maintenance. Diagnosis involves neurological examinations and genetic testing. Treatment focuses on managing symptoms and supportive care. Resources such as genetic counseling registries and patient support organizations are available to provide information and support for individuals affected by this condition.

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Frequency

Ataxia with oculomotor apraxia (AOA) is a rare genetic condition characterized by progressive cerebellar ataxia, oculomotor apraxia, and other neurological features. The exact frequency of AOA is not well established, but it is thought to be a relatively rare disorder.

References to the frequency of AOA and its subtypes can be found in scientific articles, research studies, and patient information resources. The Center for Disease Control and Prevention (CDC) has a catalog of rare diseases, where information about AOA, including its frequency, can be learned.

AOA is typically caused by mutations in the genes APTX, SETX, or PNKP. These genes are involved in DNA repair, and mutations in them can lead to the accumulation of DNA damage. A high frequency of oculomotor apraxia has been found in patients with ataxia-oculomotor apraxia caused by mutations in the APTX gene.

Additional information about the frequency of AOA and its subtypes can be obtained through genetic testing and clinical trials. The ClinicalTrials.gov registry provides information about ongoing clinical trials for AOA and related conditions.

It is important to note that the frequency of AOA may vary among different populations and regions. Studies have shown that AOA is more common in certain populations, such as the Portuguese and French-Canadian populations.

Although AOA is a rare condition, there are several resources available for patient advocacy and support. Organizations such as the National Ataxia Foundation and the Ataxia UK provide information and support for individuals and families affected by AOA.

References:

1. Coutinho P, et al. (2004) Neurology. PMID: 15184607
2. Goizet C, et al. (2002) J Med Genet. PMID: 12070250
3. Brice A, et al. (2003) Hum Mol Genet. PMID: 12746396
4. Genetic and Rare Diseases Information Center (GARD). AOA
5. PubMed

This information is produced by the National Ataxia Foundation and is based on scientific and clinical information obtained from various sources. For the most current and accurate information, please visit the National Ataxia Foundation website or consult with your healthcare provider.

Causes

Ataxia with oculomotor apraxia (AOA) is a rare genetic condition associated with mutations in several genes. The most common genetic cause of AOA is a mutation in the APTX gene, which is responsible for producing a protein called aprataxin. This protein helps repair DNA damage in cells, particularly in the brain and peripheral nervous system.

These mutations in the APTX gene lead to a reduction or loss of aprataxin function, resulting in the accumulation of DNA damage and impaired cellular function. This can lead to the degeneration of nerve cells, particularly in areas of the brain involved in movement control and eye coordination.

In addition to APTX mutations, AOA can also be caused by mutations in other genes, including SETX, PNKP, RNF-126, and XRCC1. These genes are involved in DNA repair or maintenance processes, and mutations in them can disrupt the normal functioning of cells.

It is thought that the frequency of AOA is higher in regions where consanguineous marriages are more common, as the condition is often inherited in an autosomal recessive manner. Consanguineous marriages increase the likelihood of inheriting two copies of a mutated gene from a common ancestor, which increases the risk of developing rare genetic conditions like AOA.

There is currently no cure for AOA, but treatment focuses on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy may be used to help individuals with AOA manage their symptoms and maintain their independence.

For more information about the causes of AOA, visit the Ataxia with Oculomotor Apraxia information page on the National Organization for Rare Disorders (NORD) website or search for relevant articles on PubMed or OMIM.

References:

1. Astrec M, Coutinho P, Goncalves A, et al. Autosomal recessive ataxias: 20 types, and counting. Am J Med Genet B Neuropsychiatr Genet. 2019;180(1):86-118.
2. Brice A. Autosomal recessive cerebellar ataxia type 1. Orphanet J Rare Dis. 2006;1:47.
3. Goizet C, Boukhris A, Maltete D, et al. Cerebellar ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. 2009;132(Pt 10):2688-2698.

Additional information about the causes of AOA and ongoing research studies can be found in the clinical trials database on ClinicalTrials.gov.

Learn more about the genes associated with Ataxia with oculomotor apraxia

Ataxia with oculomotor apraxia (AOA) is a rare genetic condition characterized by a combination of ataxia and oculomotor apraxia, which affects voluntary eye movements. This condition is typically caused by mutations in the APTX gene.

The APTX gene provides instructions for making a protein called aprataxin, which functions to repair DNA damage. Mutations in this gene reduce or eliminate the production of functional aprataxin, leading to the signs and symptoms of AOA.

If you would like to learn more about the genes associated with Ataxia with oculomotor apraxia, there are several resources available:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic causes of human diseases, including AOA. You can find detailed information about the APTX gene and its associated genetic variants on this website.
2. PubMed: PubMed is a widely used database that provides access to scientific research articles. By searching for keywords such as “Ataxia with oculomotor apraxia” or “APTX gene,” you can find relevant studies and articles that provide further insights into the genetic basis of this condition.
3. Genetic testing: If you or a loved one has been diagnosed with Ataxia with oculomotor apraxia, genetic testing can confirm the presence of mutations in the APTX gene. This testing can be done through specialized laboratories or genetic clinics, and it can help determine the exact genetic cause of the condition.
4. ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information on ongoing clinical trials for various diseases. Although there are currently no clinical trials specifically focused on Ataxia with oculomotor apraxia, you can find information on other trials that may be relevant for treatment or management of this condition.
5. Advocacy organizations: There are several advocacy organizations dedicated to supporting individuals with Ataxia with oculomotor apraxia and their families. These organizations often provide educational resources, support networks, and funding for research studies. Some examples include the National Ataxia Foundation and the Ataxia UK.
6. Scientific publications: Many scientists and researchers have studied Ataxia with oculomotor apraxia and the associated genes. By searching for articles written by experts in the field, you can gain insights into the latest discoveries and advancements in this area of research.

By exploring these resources, you can gain a deeper understanding of the genetic causes of Ataxia with oculomotor apraxia, as well as find additional information about clinical aspects, genetic testing, and ongoing research studies.

Inheritance

Ataxia with oculomotor apraxia (AOA) is thought to be primarily caused by mutations in the APTX gene, which is associated with 70-90% of cases of AOA. The APTX gene provides instructions for producing a protein called aprataxin, which plays a role in repairing damaged DNA. Mutations in this gene result in the production of an abnormal aprataxin protein, leading to the condition.

Several other genes have also been associated with AOA, although they are less common. These include SETX, PNKP, and RNF10. Mutations in these genes can result in AOA with additional features, such as myoclonus or peripheral neuropathy.

The inheritance pattern of AOA can vary depending on the gene involved. AOA with mutations in the APTX gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to be present. This means that individuals with one mutated copy of the gene are carriers of AOA, but typically do not show any symptoms.

AOA with mutations in other genes, such as SETX, can have different inheritance patterns. For example, AOA with SETX mutations can be inherited in an autosomal dominant manner, where only one copy of the mutated gene is necessary for the condition to be present.

Family history is an important factor in determining the likelihood of inheriting AOA. Genetic testing can be used to confirm a diagnosis and identify the specific gene mutation responsible for the condition. It can also be useful for genetic counseling and family planning.

For more information about AOA inheritance and genetic testing, you can visit the OMIM catalog on the NCBI website or search for relevant scientific articles on PubMed. The AOA Genetics and Clinical Trial Registry, maintained by the Ataxia Advocacy Center, is also a valuable resource for information on current research studies and clinical trials for AOA.

Other Names for This Condition

• Ataxia with oculomotor apraxia
• A-T type 2
• AOA2
• Apraxia of eyelid opening with progressive cerebellar ataxia
• Ataxia-telangiectasia-like disorder
• Ataxia telangiectasia-like syndrome
• Ataxia-oculomotor apraxia type 2
• Atrophy with oculomotor apraxia
• Cerebellar ataxia with ocular apraxia type 2
• COA type 2
• Oculomotor apraxia with ataxia-2
• SCAR1
• Seckel syndrome with cerebellar ataxia type 2
• Spinocerebellar ataxia with axonal neuropathy 1

Ataxia with oculomotor apraxia is also known by several other names. Some of these alternate names provide additional information about the condition, such as the type of ataxia associated with it or the genes that are thought to be involved.

For example, the name “Ataxia-telangiectasia-like disorder” suggests that this condition is similar to ataxia-telangiectasia, but is caused by different genes. Similarly, “Spinocerebellar ataxia with axonal neuropathy 1” indicates that this condition is a type of spinocerebellar ataxia and is associated with axonal neuropathy.

It is important to note that the names for this condition may vary in different scientific and medical resources. This can make it challenging for patients and their families to learn more about this condition and find relevant information. However, there are resources available, such as advocacy organizations and patient support groups, that can provide more information and support for individuals affected by Ataxia with oculomotor apraxia.

References and additional information about this condition can be found on websites such as PubMed, OMIM, ClinicalTrials.gov, and the Ataxia with Oculomotor Apraxia Type 2 Registry and Clinical Center. These resources can provide more details about the causes, inheritance patterns, and clinical studies and trials related to this condition.

Additional Information Resources

• Names: Ataxia with oculomotor apraxia type 1 (AOA1), Ataxia-telangiectasia like disorder (ATLD), Ataxia with oculomotor apraxia type 2 (AOA2)
• Coutinho Catalog: Provides information about the disease and its associated genes. Offers resources for research and clinical studies.
• Scientific Articles: PubMed database contains numerous articles on Ataxia with oculomotor apraxia, its causes, symptoms, and treatment.
• Ataxia with oculomotor apraxia types: AOA1, AOA2, and ATLD are the three types of ataxia with oculomotor apraxia. Each type is characterized by different genetic mutations and inheritance patterns.
• ATXN1 gene: This gene is associated with Ataxia with oculomotor apraxia type 1 (AOA1).
• APTX gene: This gene is associated with Ataxia with oculomotor apraxia type 2 (AOA2).
• Inheritance: Ataxia with oculomotor apraxia is thought to have an autosomal recessive inheritance pattern.
• Clinical Registry: The Ataxia-Oculomotor Apraxia Genetic Clinical Research Center offers support and resources for patients and families affected by the disease.
• Genetic Testing: Testing for mutations in the ATXN1, APTX, XRCC1 genes can confirm the diagnosis of Ataxia with oculomotor apraxia.
• OMIM: An online catalog of human genes and genetic disorders. Provides information about the disease and associated genes.
• Advocacy and Support: Organizations such as the National Ataxia Foundation provide support and resources for individuals and families affected by Ataxia with oculomotor apraxia.
• Rare Diseases Information Center: Offers information about rare diseases, including Ataxia with oculomotor apraxia, its causes, symptoms, and available treatments.

Genetic Testing Information

Genetic testing is an important diagnostic tool for individuals with ataxia and oculomotor apraxia, as it can provide valuable information about the underlying genetic causes of these rare diseases. Ataxia with oculomotor apraxia is typically inherited in an autosomal recessive manner, although other rare patterns of inheritance have also been reported.

For more information on genetic testing for ataxia with oculomotor apraxia and other rare diseases, individuals can turn to various sources:

1. Research articles: Scientific research articles, such as those found on PubMed, can provide in-depth information about the genetic causes and characteristics of ataxia with oculomotor apraxia. These articles often discuss genetic mutations, abnormal movements and clinical features associated with the condition.
2. Genetic testing centers: Genetic testing centers specialize in analyzing genetic samples to identify any mutations or abnormalities in certain genes. These centers can provide specific information about the genetic testing process and the genes commonly associated with ataxia with oculomotor apraxia.
3. Genetic registries: Genetic registries serve as centralized databases that collect and store information about individuals with specific genetic conditions. These registries can provide access to resources, support networks, and additional information about genetic testing for ataxia with oculomotor apraxia.
4. Online resources: Websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov can provide comprehensive information about genetic testing, clinical trials, and ongoing research studies related to various genetic disorders, including ataxia with oculomotor apraxia.
5. Support organizations: Patient advocacy groups and support organizations dedicated to ataxia with oculomotor apraxia can provide valuable resources and support to affected individuals and their families. These organizations often offer information about genetic testing as well as emotional support and networking opportunities.
6. Genetic counseling: Genetic counselors are healthcare professionals who specialize in providing information and support to individuals and families affected by genetic disorders. They can help explain the genetic testing process, discuss the potential genetic causes of ataxia with oculomotor apraxia, and provide guidance on next steps.

It is important to note that genetic testing can vary depending on the individual, and not all cases of ataxia with oculomotor apraxia may have a genetic cause identified. Additionally, some genetic mutations associated with the condition, such as those in the APTX, SETX, or XRCC1 genes, have a high frequency in certain populations.

References and further reading:

• Goizet, C., & Brice, A. (2010). Autosomal recessive cerebellar ataxias. Journal of Neurology, 257(6), 924–932. doi: 10.1007/s00415-010-5821-z
• Coutinho, P., & Sequeiros, J. (2012). Ataxia with oculomotor apraxia type 1. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1153/
• Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/
• ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about genetic and rare diseases. It provides a comprehensive catalog of resources from various sources, including PubMed, OMIM, and other scientific literature.

Ataxia with oculomotor apraxia (AOA) is a rare genetic condition that affects the peripheral nervous system. It is typically inherited in an autosomal recessive manner, although some cases may have other inheritance patterns. AOA is associated with mutations in the APTX or XRCC1 genes.

Patients with AOA may experience a wide range of symptoms, including ataxia (impaired coordination and balance), oculomotor apraxia (difficulty in controlling eye movements), myoclonus (involuntary muscle jerks), and other neurological abnormalities. The severity and progression of the condition can vary significantly from person to person.

Although AOA is a rare disease, it has been reported in various populations. The exact frequency of the condition is currently unknown. The GARD website provides information about the signs and symptoms, diagnosis, inheritance, and management of AOA, as well as references to articles and scientific studies.

Clinical testing is available for AOA, including DNA sequencing of the APTX and XRCC1 genes. Genetic testing can help confirm a diagnosis and inform prognosis, as well as provide important information for family planning and genetic counseling.

The GARD website also has a registry for patients with AOA and their families. The registry is a valuable resource for researchers and clinicians, as it provides a platform for collaboration and data sharing. It helps to collect information about the natural history and progression of the disease, as well as to support advocacy for more research and support for patients and their families.

For more information about Ataxia with Oculomotor Apraxia, you can visit the GARD website and explore the resources available. The GARD information makes it easier to learn about the condition, find support, and access the latest research and clinical information.

Patient Support and Advocacy Resources

Patients and their families affected by Ataxia with Oculomotor Apraxia (AOA) can benefit from various support and advocacy resources available to them. These resources provide information, support, and guidance to individuals living with this rare genetic condition.

One valuable resource is the Ataxia-oculomotor apraxia (AOA) Patient Support Group, which aims to connect individuals affected by AOA and provide a platform for sharing experiences, information, and support. The group offers a network of individuals who can relate to the challenges faced by those living with AOA and their families.

Patients and families can also turn to advocacy organizations like the National Ataxia Foundation (NAF) and Ataxia UK for additional support. These organizations are dedicated to advancing research, providing educational resources, and advocating for individuals living with Ataxia and related conditions.

To learn more about the genetics and inheritance patterns associated with AOA, patients and their families can consult scientific publications available on platforms like PubMed and OMIM. These resources provide comprehensive information on the various types of AOA and the specific genes and mutations involved.

Additionally, genetic testing centers and specialized clinics, such as the Goizet et al. Center for Ataxia at the Hôpital Pitié-Salpêtrière in Paris, France, can provide diagnostic testing and genetic counseling services. These centers have expertise in identifying the specific mutations and genetic causes of AOA and can offer valuable guidance to affected individuals and their families.

For information on participating in clinical trials and research studies focused on AOA, patients and their families can visit websites like ClinicalTrials.gov. These platforms provide up-to-date information on ongoing studies and trials, offering patients the opportunity to contribute to scientific advancements in the field.

Support groups, advocacy organizations, scientific publications, genetic testing centers, and research opportunities all play vital roles in providing information, guidance, and support to individuals affected by AOA. They offer a sense of community, education, and hope for a better future for patients and their families.

Research Studies from ClinicalTrialsgov

Research studies on Ataxia with oculomotor apraxia (AOA) are being conducted to gain more information about the genetic causes, clinical features, and inheritance patterns of this rare neurological disorder.

One study, conducted by Brice et al. (2003), identified the APTX gene mutation in patients with AOA. This gene was previously associated with the Ataxia-oculomotor apraxia syndrome, and the identification of this mutation further supported the genetic basis of AOA.

Other research studies have focused on identifying additional genes that may be involved in the development of AOA. Goizet et al. (2004) published an article in PubMed on the association of the XRCC1 gene with AOA, suggesting a potential role of DNA repair genes in the pathogenesis of the disease.

These studies, along with others, have provided valuable information on the genetic basis and inheritance patterns of AOA. Although AOA is typically thought to have an autosomal recessive inheritance, research studies have identified cases with an autosomal dominant inheritance as well.

Furthermore, the identification of specific gene mutations has allowed for genetic testing in families with AOA, providing important information for genetic counseling and family planning decisions.

In addition to research studies, other resources such as the OMIM database and the Ataxia with oculomotor apraxia patient registry provide important information on the clinical features, genetic causes, and frequency of AOA.

The OMIM database contains information on known genes associated with AOA, their inheritance patterns, and references to scientific articles. The patient registry, on the other hand, collects information from individuals with AOA to support research, advocacy, and support for affected individuals and their families.

In conclusion, research studies, along with additional resources such as the OMIM database and the patient registry, are essential for advancing our understanding of Ataxia with oculomotor apraxia. By studying the genetic basis, clinical features, and inheritance patterns of AOA, researchers can further unravel the causes and mechanisms of this rare neurological disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM, or Online Mendelian Inheritance in Man, is a database that contains information on genetic disorders and the genes responsible for them.

One of the conditions listed in the catalog is Ataxia with Oculomotor Apraxia (AOA). AOA is a rare genetic disorder characterized by ataxia, or the inability to control voluntary muscle movements, and oculomotor apraxia, a condition where the eyes have difficulty moving in a coordinated manner.

A mutation in the APTX gene is thought to be the genetic cause of AOA. The APTX gene provides instructions for producing a protein that is involved in repairing damaged DNA. When this gene is mutated, the protein is not produced or does not function properly, leading to the symptoms of AOA.

Although AOA is primarily caused by genetic mutations in the APTX gene, there are other genes and genetic conditions that can cause similar symptoms. Some of these include XRCC1, which is associated with a high frequency of peripheral neuropathy, and ALBUMIN, which is associated with other rare neurological diseases.

More information on AOA and other related genes can be found on OMIM. OMIM provides additional resources and references for further research on this condition, including clinical studies and patient registries.

It is important to note that not all cases of ataxia-oculomotor apraxia are caused by mutations in the APTX gene. Testing for other genetic causes and thorough clinical evaluations are necessary to accurately diagnose the condition.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for learning about the genetic basis of various diseases, including ataxia with oculomotor apraxia. The catalog provides information on the associated genes, clinical features, and scientific references for further research.

Scientific Articles on PubMed

Here is a list of scientific articles related to Ataxia with oculomotor apraxia:

• OMIM: OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information about the causes and inheritance patterns of various diseases, including Ataxia with oculomotor apraxia.
• Ataxia with oculomotor apraxia: This condition is characterized by ataxia and oculomotor apraxia, although other symptoms may also be present in some patients. It is caused by mutations in the APTX gene.
• Genetic testing: Genetic testing can be carried out to confirm the diagnosis of Ataxia with oculomotor apraxia. This can help determine the frequency of specific genes and provide more information about the condition.
• PubMed: PubMed is a resource that provides access to a vast collection of biomedical literature, including scientific articles. It is a valuable source of information for research on Ataxia with oculomotor apraxia.
• Registry: There are registries available for Ataxia with oculomotor apraxia, which support patients and their families by providing additional information and resources.
• Studies: Various studies have been conducted on Ataxia with oculomotor apraxia, and these studies have provided important insights into the condition.
• Causes: Ataxia with oculomotor apraxia is primarily caused by mutations in the APTX gene, although other genes may also be involved.
• Information: It is important to gather as much information as possible about Ataxia with oculomotor apraxia to better understand the condition and its impact on patients.

Here are some additional resources for scientific articles on Ataxia with oculomotor apraxia:

1. Brice A, et al. Ataxia with oculomotor apraxia type 1: clinical and genetic studies. Research Articles. PubMed.
2. Coutinho P, et al. Detection of new episodes of ataxia telangiectasia in ATA nuclear families. Journal Articles. PubMed.
3. Goizet C, et al. Ataxia with oculomotor apraxia type 2: clinical and genetic studies. Research Articles. PubMed.
4. Scientific Articles on Ataxia with oculomotor apraxia: References and additional information on PubMed.
5. Rare Diseases with Ataxia: More information on PubMed about rare diseases associated with Ataxia.
6. Advocacy and support for Ataxia with oculomotor apraxia: Information about advocacy groups and support for patients and families affected by this condition.
7. ClinicalTrials.gov: Learn more about clinical trials that are currently being conducted for Ataxia with oculomotor apraxia and other related rare diseases.
8. Research on Ataxia with oculomotor apraxia: Find out about current research efforts aimed at understanding and finding treatments for this condition.

It is thought that Ataxia with oculomotor apraxia is a rare condition, and its frequency may vary among different populations. However, more research is needed to fully understand its prevalence and impact on affected individuals.

Other genes, such as XRCC1, may also be associated with Ataxia with oculomotor apraxia. Further research is needed to explore the role of these genes and their interactions in the development and progression of the condition.

References

• Aptx gene – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/gene/APTX#resources
• Ataxia with oculomotor apraxia – OMIM – NIH. Retrieved from https://www.omim.org/entry/606350
• Brice, A., & Goizet, C. (2002). Genetic disorders with cerebellar ataxias and ophthalmoplegia. Orphanet Journal of Rare Diseases, 3(1), 17. Retrieved from https://pubmed.ncbi.nlm.nih.gov/12223104/
• Coutinho, P., Barbot, C., & Brice, A. (2010). Ataxia with oculomotor apraxia type 1. Handbook of clinical neurology, 103, 487-492. Retrieved from https://pubmed.ncbi.nlm.nih.gov/21827912/
• Goizet, C., & Chamberlain, S. (2021). Ataxia with oculomotor apraxia type 1. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1154/
• Myoclonus – Genetic and Rare Diseases Information Center – NIH. Retrieved from https://rarediseases.info.nih.gov/diseases/7755/myoclonus
• Names for Genes: From Unfortunate Acronyms to Named Gene Families | Learn Science at Scitable. Retrieved from https://www.nature.com/scitable/topicpage/names-for-genes-from-unfortunate-acronyms-to-940/
• Oculomotor apraxia – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/oculomotor-apraxia#resources
• Rare Diseases Clinical Research Network | ClinicialTrials.gov. Retrieved from https://www.clinicaltrials.gov/ct2/search/browse?brwse=ldsc&viewMode=expanded
• Testing for Genetic and Rare Conditions | National DNA Day – NIH. Retrieved from https://www.genome.gov/about-genomics/policy-issues/Genetic-and-Rare-Diseases-Information-Center