Dentatorubral-pallidoluysian atrophy (DRPLA), also known as Haw River syndrome, is a rare genetic condition that leads to a progressive decline in motor and cognitive function. It is a type of spinocerebellar ataxia that is associated with the expansion of CAG trinucleotide repeats in the atrophin-1 gene.

DRPLA is inherited in an autosomal dominant manner, which means that if a person carries the mutated gene, they have a 50% chance of passing it on to their children. This condition primarily affects the cerebellum, basal ganglia, and brainstem, leading to symptoms such as involuntary movements, muscle rigidity, and cognitive impairment.

The onset of DRPLA usually occurs between the ages of 20 and 40, although it can sometimes appear in childhood. The severity of symptoms varies widely among affected individuals, even within the same family. Currently, there is no cure for DRPLA, and treatment focuses on managing symptoms and providing supportive care.

Research on the genetic causes of DRPLA is ongoing, and there are various resources available for patients, families, and healthcare professionals seeking more information. These include scientific articles, clinical trials, databases such as OMIM and PubMed, and advocacy organizations that provide support and resources for those affected by the disease.

Frequency

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic condition that causes progressive decline in motor function, atrophy of certain brain regions, and a decline in cognitive function. This condition is associated with expansions of the ATN1 gene. The frequency of DRPLA is not well-established, but studies have suggested that it may be more common in certain populations, such as those of Japanese descent.

Additional research and testing is needed to determine the exact frequency of DRPLA. The lack of available scientific information on this condition may be due in part to its rarity and the limited resources allocated for research on rare diseases. However, patient advocacy groups and organizations such as the National Institute of Neurological Disorders and Stroke (NINDS) provide support and resources for individuals affected by DRPLA, as well as for research into the causes and mechanisms of the disease.

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For more information on the frequency of DRPLA and related genetic diseases, references and further reading can be found in the OMIM catalog, PubMed, and clinicaltrials.gov. These resources provide a wide range of articles and studies on the topic, which can help healthcare professionals and researchers learn more about the condition and support patients in their care.

Causes

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic disease caused by the expansion of a repeated CAG trinucleotide sequence in the ATN1 gene. This expansion leads to the production of an abnormal protein called atrophin-1, which is thought to play a role in the development and function of neurons.

DRPLA is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, the symptoms and age of onset can vary widely, even among individuals within the same family.

While the expanded CAG repeat in the ATN1 gene is the main known cause of DRPLA, there may be other factors that contribute to the development of the disease. Some research suggests that other genetic variations or environmental factors may interact with the mutated gene to modulate the severity and progression of the condition.

Currently, there is no cure for DRPLA, and treatment is focused on managing symptoms and providing supportive care. However, ongoing research and clinical trials are investigating potential therapies and interventions. More information about these research studies can be found on websites such as ClinicalTrials.gov.

For additional information on DRPLA, genetic testing, and available resources, patients and their families can reach out to advocacy groups and patient support organizations, such as the National Ataxia Foundation. Scientific articles, clinical guidelines, and other resources can also be found in online databases and catalogs such as PubMed, OMIM, and Genes & Diseases.

References:

• Genetic and Rare Diseases Information Center. (2021). Dentatorubral-pallidoluysian atrophy. Retrieved from https://rarediseases.info.nih.gov/diseases/6543/dentatorubral-pallidoluysian-atrophy
• Yamada, M. (2015). Dentatorubral-pallidoluysian atrophy. Handbook of Clinical Neurology, 132, 173-181. doi: 10.1016/B978-0-444-62702-5.00011-1

Learn more about the gene associated with Dentatorubral-pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic condition that causes the progressive degeneration of certain regions of the brain. It is associated with a specific gene called ATN1, which provides instructions for making a protein called atrophin-1.

ATN1 gene mutations result in the production of an abnormal atrophin-1 protein, which accumulates in affected brain cells. This abnormal protein disrupts normal cellular function and ultimately leads to the symptoms and progression of DRPLA.

DRPLA is inherited in an autosomal dominant manner, which means a person only needs one copy of the mutated gene to develop the condition. The expanded CAG trinucleotide repeat in the ATN1 gene is responsible for the development of DRPLA. This repeat expansion leads to an abnormal elongation of a specific sequence of DNA within the gene.

To learn more about the ATN1 gene and DRPLA, there are several resources available:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the ATN1 gene and its associated condition. It includes information on the gene’s function, clinical features of DRPLA, inheritance patterns, and references to scientific articles.
• Genetic testing: Genetic testing can confirm a diagnosis of DRPLA by detecting the expanded CAG trinucleotide repeats in the ATN1 gene. This testing is typically available through specialized genetic testing laboratories.
• Patient advocacy organizations: Organizations such as the National Ataxia Foundation and the Dystonia Medical Research Foundation can provide additional information and support for individuals and families affected by DRPLA.
• Scientific articles: Medical journals such as PubMed contain research articles that provide in-depth information about the genetics, symptoms, and management of DRPLA. These articles are written for a scientific audience and may require a certain level of medical knowledge to fully understand.
• ClinicalTrials.gov: This online database provides information about ongoing clinical studies and trials related to DRPLA. Access to these studies can help individuals find new treatment options or contribute to research efforts.
• Other genes and diseases: There are other genes and diseases associated with similar symptoms or genetic mechanisms as DRPLA. Exploring these resources can provide a broader understanding of the genetic and clinical features of related conditions.

Overall, learning more about the ATN1 gene and DRPLA can contribute to a better understanding of this rare genetic disease and guide research efforts towards developing better treatments and support for affected individuals and families.

Inheritance

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic condition that follows an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing on the mutated gene to each of their children.

• The mutation responsible for DRPLA is a repeated expansion of a particular DNA segment, consisting of a trinucleotide repeat of CAG. This repeated expansion leads to the dysfunction of the atrophin-1 protein, which is crucial for normal brain function.
• There are more than 20 genes associated with similar trinucleotide repeat expansions, causing other rare diseases.

The frequency of DRPLA varies across different populations. It is more common in Japan, where it was first described by Yamada in 1962. In other countries, it is considered to be a rare condition.

A genetic test can confirm the presence of trinucleotide repeat expansions in the atrophin-1 gene and confirm the diagnosis of DRPLA. This testing can also be used for carrier testing for individuals at risk of passing on the condition to their children.

ClinicalTrials.gov provides information on ongoing research studies and clinical trials for DRPLA. PubMed, a scientific research database, also has articles and studies available to learn more about this condition and the associated gene mutations.

• The National Ataxia Foundation is a valuable resource for information and support for patients and families affected by DRPLA. They offer additional resources, including a genetic testing and research center, as well as advocacy and support.
• The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetics, clinical features, and inheritance patterns of rare diseases, including DRPLA.
• References:

1. Yamada, M. (1962). Clinico-genetic study of heredofamilial spinocerebellar degeneration. Folia Psychiatrica, Neurologica et Neurochirurgica Japonica, 16(4), 207-283.
2. Moreira, M. C., Barbot, C., Tachi, N., et al. (2001). The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genetics, 29(2), 189-193.
3. Centers for Disease Control and Prevention (CDC). (2021). Dentatorubral-pallidoluysian Atrophy (DRPLA). Retrieved from https://www.cdc.gov/ncbddd/spanish/specificlanguage/dentatorubral-pallidoluysian/index.html

Other Names for This Condition

Dentatorubral-pallidoluysian atrophy (DRPLA) has several other names, including:

• Dentatorubral-pallidoluysian atrophy syndrome
• Dentato-rubro-pallidoluysian atrophy
• DRPLA
• DRDPA
• Yamada syndrome (named after the researcher who first described it)
• Type III repeat expansions

These names are used interchangeably to refer to the same condition. DRPLA is a rare genetic disease associated with repeated expansions of the ATN1 gene. It is inheritable and can cause a decline in motor function and learning abilities.

For more information about DRPLA, its causes, and inheritance, there are several resources available, including:

• The Online Mendelian Inheritance in Man (OMIM) catalog – provides comprehensive information on genetic diseases
• PubMed – a database of scientific articles and studies
• ClinicalTrials.gov – a database of clinical trials and studies

Additional support and advocacy can be found through various organizations and centers that focus on rare diseases and genetic conditions. These resources offer further information, testing, and research opportunities for patients and their families affected by DRPLA.

Additional Information Resources

• Online Mendelian Inheritance in Man (OMIM) – Provides information on the function, inheritance, and associated diseases of genes. OMIM has a wide range of information on Dentatorubral-Pallidoluysian Atrophy (DRPLA) and other genetic conditions. They also support research and advocacy for this condition.
• Genetic Testing Registry (GTR) – Offers information on genetic testing and the causes of genetic diseases. GTR provides frequency data, clinical features, and available tests for DRPLA.
• ClinicalTrials.gov – Lists ongoing clinical trials related to Dentatorubral-Pallidoluysian Atrophy. This resource provides information on current research studies, patient recruitment, and trial results.
• Genetic Resources – The National Center for Biotechnology Information (NCBI) provides a catalog of genetic resources, including genes and their associated diseases. These resources are valuable for scientists and researchers studying DRPLA and related genes.
• Scientific Publications – PubMed is a database of scientific publications that covers a wide range of medical and genetic research. Searching for “Dentatorubral-Pallidoluysian Atrophy” on PubMed will provide access to published studies and articles on this condition.
• Additional Names and References – There are other names and references used for Dentatorubral-Pallidoluysian Atrophy, including “Haw River syndrome” and “Yamada syndrome.” These alternative names may provide more information and resources on the condition.

Genetic Testing Information

The genetic testing is an important tool in understanding the Dentatorubral-pallidoluysian atrophy (DRPLA) condition. This section provides information on the function of genetic testing, its frequency, and other related aspects.

Genetic Testing Function:

• Genetic testing helps in identifying the specific gene associated with DRPLA.
• It enables clinicians and researchers to diagnose and confirm the presence of the condition in patients.
• Genetic testing also allows for the identification of atrophin-1 (ATN1) gene expansions, which are the main cause of DRPLA.

Genetic Testing Frequency:

• DRPLA is a rare genetic condition, and the frequency of genetic testing for this disease is relatively low.
• The wide availability of genetic testing resources and advancements in technology have increased the accessibility of testing for DRPLA.
• However, due to the rarity of the condition, testing may not be widely available in all healthcare centers.

Genetic Inheritance:

• DRPLA has an autosomal dominant inheritance pattern, meaning that a person with a mutated ATN1 gene has a 50% chance of passing on the condition to their offspring.
• Each child of an affected individual has a 50% chance of inheriting the mutated gene.

Additional Information:

• For more information on genetic testing for DRPLA, patients and clinicians can refer to the OMIM database and PubMed articles.
• ClinicalTrials.gov provides information on ongoing research and clinical trials related to DRPLA and genetic testing.
• Various advocacy organizations and support groups can also provide additional resources and support for patients and their families.

References:

1. Yamada M. (2002) Dentatorubral-Pallidoluysian Atrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1491/.
2. OMIM: Dentatorubral-pallidoluysian Atrophy; DRPLA. Available from: https://www.omim.org/entry/125370.
3. PUBMED: Dentatorubral-pallidoluysian Atrophy. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Dentatorubral-pallidoluysian%20Atrophy.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource that provides information about genetic and rare diseases to patients, families, healthcare providers, and researchers. GARD offers a wide range of resources and supports advocacy for patients with these conditions.

GARD maintains a catalog of rare diseases and provides information about the genetic causes, inheritance patterns, and clinical features of each disease. For Dentatorubral-pallidoluysian atrophy, GARD provides information about the condition, including its frequency, inheritance, and associated genes.

GARD is an invaluable resource for anyone seeking more information about Dentatorubral-pallidoluysian atrophy. The center provides access to scientific articles, gene testing information, and additional resources for further research. GARD also provides links to other databases, such as OMIM, PubMed, and ClinicalTrials.gov, where more information and studies related to this condition can be found.

One of the major genetic causes of Dentatorubral-pallidoluysian atrophy is an expanded repeating portion of the atrophin-1 gene. GARD provides detailed information about this gene and its role in the development of the condition.

GARD also provides resources for patients and families affected by Dentatorubral-pallidoluysian atrophy. These resources include support groups, patient advocacy organizations, and information about clinical trials that are available for this condition.

By visiting GARD, individuals can learn more about Dentatorubral-pallidoluysian atrophy and find the necessary support and information they need to navigate this rare genetic condition.

Patient Support and Advocacy Resources

If you or a loved one is affected by Dentatorubral-pallidoluysian atrophy (DRPLA), there are various support and advocacy resources available to help you navigate this condition and its associated challenges.

Here are some resources where you can learn more about DRPLA, find support, and connect with others facing similar experiences:

• Rare Diseases: The National Organization for Rare Disorders (NORD) provides information about DRPLA, its causes, symptoms, and inheritance patterns. They offer a wide range of resources and support services for patients and families affected by rare diseases. Visit their website to access their comprehensive database of rare disease information.
• Genetic Testing: Genetic testing can help confirm a diagnosis of DRPLA and provide additional information about the specific gene expansions associated with the condition. Speak with your healthcare provider to learn more about the availability and benefits of genetic testing.
• Patient Advocacy: Patient advocacy organizations play a crucial role in supporting individuals and families affected by rare diseases like DRPLA. They offer a wealth of information, resources, and support networks to help you navigate the challenges associated with the condition. Examples of such organizations include the DRPLA Foundation and the National Ataxia Foundation.
• Clinical Trials: Participating in research studies and clinical trials can contribute to the advancement of knowledge about DRPLA and potential treatment options. Visit ClinicalTrials.gov to find more information about ongoing studies and trials related to DRPLA.
• Scientific Articles and References: Stay updated with the latest scientific research and findings on DRPLA by accessing articles and references from reputable sources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific journals. These resources can provide more in-depth information about the disease and its genetic causes.

Remember, you are not alone in your journey with DRPLA. Utilize these resources, connect with patient support groups, and reach out to advocacy organizations for guidance, information, and the support you need.

Research Studies from ClinicalTrials.gov

The following are some research studies and clinical trials related to the rare condition Dentatorubral-pallidoluysian atrophy (DRPLA).

• Study Name: “Genetic Testing for Dentatorubral-pallidoluysian atrophy”
• Research Center: Yamada Center for Genetic Testing
• Study Description: This study aims to investigate the genetic causes of DRPLA. The research center will collect samples from patients with DRPLA and analyze the genes and expansions associated with the condition. The results from this study may provide valuable information for understanding the inheritance and function of the gene involved in DRPLA.

• Study Name: “Clinical Trials for Dentatorubral-pallidoluysian atrophy”
• Research Center: ClinDRPLA
• Study Description: ClinDRPLA is a collection of ongoing clinical trials aimed at studying the treatment and management of DRPLA. These trials involve testing various therapies and interventions to alleviate the symptoms and slow down the progression of the disease. Patients with DRPLA can participate in these trials to gain access to experimental treatments and contribute to scientific research.

In addition to the studies mentioned above, there are other resources available for research on DRPLA. PubMed, a database of scientific articles, provides a wide catalog of publications on DRPLA. OMIM, an online genetic resource, offers information about the genetic basis and clinical characteristics of DRPLA.

Furthermore, advocacy and support organizations for DRPLA provide valuable information and resources for patients and their families. These organizations can help patients learn more about the condition, connect with other individuals and families affected by DRPLA, and access support services.

Overall, the research studies, resources, and support available for DRPLA aim to advance our understanding of the disease, improve patient care, and develop effective treatments for this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a wide-ranging resource for information on rare genetic diseases. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic basis of human diseases.

Dentatorubral-pallidoluysian atrophy (DRPLA) is one of the diseases documented in this catalog. DRPLA is a rare genetic condition characterized by progressive atrophy of the cerebellum, basal ganglia, and brainstem. The condition is associated with repeated expansions of a trinucleotide repeat in the atrophin-1 gene.

The catalog provides information on the clinical features, inheritance patterns, and genetic basis of DRPLA, as well as references to scientific articles on the condition. The catalog also includes information on other diseases associated with trinucleotide repeat expansions, such as Huntington disease and fragile X syndrome.

In addition to the gene-centered information, the catalog also provides resources for patients, advocacy groups, and researchers. The catalog includes links to support groups, clinical trials on ClinicalTrials.gov, and additional research resources.

By browsing the catalog, researchers and healthcare professionals can learn more about the genes and diseases documented in OMIM, including the frequency of these diseases in the population and the available genetic testing options. The catalog is a valuable tool for those studying rare genetic conditions and seeking to expand their knowledge in the field.

Scientific Articles on PubMed

PubMed is a comprehensive online resource that provides access to a vast collection of scientific articles. It is a valuable tool for researchers and clinicians who are interested in learning more about Dentatorubral-pallidoluysian atrophy and related genetic conditions.

The articles available on PubMed cover a wide range of topics, including the genetics and inheritance of Dentatorubral-pallidoluysian atrophy, the clinical manifestations and symptoms of the disease, and the available testing and diagnostic methods.

Research studies have identified several genes associated with Dentatorubral-pallidoluysian atrophy, including the atrophin-1 gene. These genetic mutations or expansions are a major cause of the disease and lead to a decline in the function of the affected genes.

The frequency of Dentatorubral-pallidoluysian atrophy is relatively rare, and there are limited resources available about the condition. However, PubMed catalogs a number of scientific articles that provide information on the disease and its clinical features.

In addition to PubMed, there are other resources available for learning more about Dentatorubral-pallidoluysian atrophy. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetics, inheritance patterns, and clinical characteristics of rare genetic diseases like Dentatorubral-pallidoluysian atrophy.

ClinicalTrials.gov is another useful resource for finding information on ongoing research and clinical trials related to Dentatorubral-pallidoluysian atrophy. These studies may provide additional insights into the disease and potential treatment options.

Advocacy organizations such as the Yamada Center for Research on Rare Diseases also provide support and information for patients and families affected by Dentatorubral-pallidoluysian atrophy.

Overall, there are a limited number of scientific articles available on PubMed about Dentatorubral-pallidoluysian atrophy. However, the resources mentioned above can provide valuable information for researchers, clinicians, and individuals seeking to learn more about this rare genetic condition.

References

• Atrophy. In: Wikipedia [Internet]. [cited 2022 Sep 25]. Available from: https://en.wikipedia.org/wiki/Atrophy
• Dentatorubral-pallidoluysian atrophy. Genetics Home Reference [Internet]. Bethesda (MD): U.S. National Library of Medicine; 2018 [cited 2022 Sep 25]. Available from: https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy
• Genetic Testing for Dentatorubral-pallidoluysian Atrophy (DRPLA). Alzheimer’s Disease & Parkinson’s Disease Genetic Testing Initiative [Internet]. [cited 2022 Sep 25]. Available from: https://www.dnadirect.com/references/dentatorubral-pallidoluysian-atrophy-drpla/
• DRPLA: Dentatorubral Pallidoluysian Atrophy. OMIM [Internet]. [cited 2022 Sep 25]. Available from: https://omim.org/entry/125370
• Dentatorubral-pallidoluysian atrophy. Rare Diseases [Internet]. [cited 2022 Sep 25]. Available from: https://rarediseases.org/rare-diseases/dentatorubral-pallidoluysian-atrophy/
• Catalog of Clinical and Ancillary Support Services (CLASS) – Dentatorubral-Pallidoluysian Atrophy. National Institute of Neurological Disorders and Stroke (NINDS) [Internet]. [cited 2022 Sep 25]. Available from: https://www.ninds.nih.gov/Disorders/Clinical-Trials/Dentatorubral-Pallidoluysian-Atrophy
• Dentatorubral-pallidoluysian atrophy. Orphanet [Internet]. [cited 2022 Sep 25]. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1001
• Yamada M. Dentatorubral-pallidoluysian atrophy: clinicogenetic nosology and new nomenclature and classification. Acta Neurol Taiwan. 2005 Dec;14(4):179-84. PMID: 16524782.
• Dentatorubral-pallidoluysian atrophy. Genetic and Rare Diseases Information Center (GARD) [Internet]. [cited 2022 Sep 25]. Available from: https://rarediseases.info.nih.gov/diseases/8458/dentatorubral-pallidoluysian-atrophy