PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare genetic condition caused by mutations in the PRICKLE1 gene. This gene is responsible for encoding a protein that plays a role in cell signaling and development. Mutations in the PRICKLE1 gene can lead to a loss of protein function, causing problems in the central nervous system.
Patients with PRICKLE1-related progressive myoclonus epilepsy with ataxia typically experience progressive myoclonus (sudden, involuntary muscle jerks) and ataxia (lack of muscle coordination). These symptoms usually appear during childhood or adolescence and worsen over time.
There are currently only a few reported cases of PRICKLE1-related progressive myoclonus epilepsy with ataxia, making it a rare condition. It is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene to develop the condition.
Diagnosing PRICKLE1-related progressive myoclonus epilepsy with ataxia can be challenging, as the symptoms overlap with other diseases. However, genetic testing can confirm the diagnosis by identifying mutations in the PRICKLE1 gene. Additional testing, such as brain imaging and nerve conduction studies, may also be done to further evaluate the patient’s condition.
There is currently no cure for PRICKLE1-related progressive myoclonus epilepsy with ataxia. Treatment focuses on managing the symptoms and may include the use of antiepileptic drugs to control seizures and physical therapy to improve muscle coordination.
More research on PRICKLE1-related progressive myoclonus epilepsy with ataxia is needed to better understand the condition and develop more effective treatments. Scientific articles and resources are available for healthcare professionals and advocacy groups provide support and information for patients and their families.
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References:
1. Neufeld MY, et al. PRICKLE1-related progressive myoclonus epilepsy with ataxia. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559239/.
2. OMIM entry for PRICKLE1-related progressive myoclonus epilepsy with ataxia. Available from: https://omim.org/entry/617265.
3. Berkovic SF, et al. PRICKLE1-related progressive myoclonus epilepsy with ataxia. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557041/.
Frequency
The frequency of PRICKLE1-related progressive myoclonus epilepsy with ataxia is rare. It is a very rare condition that is associated with problems in the PRICKLE1 gene. According to the OMIM database, only a few cases of this condition have been reported.
PRICKLE1-related progressive myoclonus epilepsy with ataxia is an autosomal recessive condition, meaning that it can be inherited when both copies of the gene have mutations. The condition is more common in certain populations, such as those with Ashkenazi Jewish ancestry.
Due to the rarity of this condition, testing for PRICKLE1 mutations may not be widely available. It is recommended that individuals with symptoms of myoclonus epilepsy with ataxia consult with a healthcare professional who specializes in genetic disorders for proper diagnosis and testing.
For more information on the frequency and genetic causes of PRICKLE1-related progressive myoclonus epilepsy with ataxia, additional resources and scientific articles can be found in the OMIM database, PubMed, and other catalogs of genetic diseases.
Causes
The cause of PRICKLE1-related progressive myoclonus epilepsy with ataxia is a mutation in the PRICKLE1 gene. This gene provides instructions for making a protein that is involved in the development and function of the nervous system.
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare condition. It is also known by other names, including Neufeld ataxia and autosomal recessive cerebellar ataxia type 1 (ARCA1). It is inherited in an autosomal recessive pattern, which means that both copies of the PRICKLE1 gene in each cell have mutations.
Studies have shown that mutations in the PRICKLE1 gene can cause problems with the function of the protein it produces. This can lead to the signs and symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia.
There is currently no cure for PRICKLE1-related progressive myoclonus epilepsy with ataxia. However, there are treatments available to manage the symptoms and improve the quality of life for affected individuals.
If you or a family member has been diagnosed with PRICKLE1-related progressive myoclonus epilepsy with ataxia, it is important to gather as much information as possible about the condition. Resources such as scientific articles, patient advocacy groups, and genetic testing can provide additional information and support.
- Learn more about PRICKLE1-related progressive myoclonus epilepsy with ataxia from the Online Mendelian Inheritance in Man (OMIM) catalog. [1]
- Find out about genetic testing for PRICKLE1-related progressive myoclonus epilepsy with ataxia and other related conditions from the Genetic Testing Registry. [2]
- References:
| 1. | Berkovic, S.F. et al. (2010). PRICKLE1 mutation causing epilepsy syndrome with cerebellar symptoms. [PubMed] |
|---|---|
| 2. | OMIM Entry – #618387 – PRICKLE1-RELATED PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA; PCEA |
For more information and support, you can also reach out to patient advocacy groups and organizations dedicated to PRICKLE1-related progressive myoclonus epilepsy with ataxia.
Learn more about the gene associated with PRICKLE1-related progressive myoclonus epilepsy with ataxia
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare genetic condition characterized by progressive myoclonus, epilepsy, and ataxia. It is caused by mutations in the PRICKLE1 gene.
The PRICKLE1 gene provides instructions for making a protein that plays a role in the development and function of the brain. Mutations in this gene can disrupt the normal function of the protein, leading to the signs and symptoms of the condition.
PRICKLE1-related progressive myoclonus epilepsy with ataxia is inherited in an autosomal recessive pattern, which means that both copies of the PRICKLE1 gene in each cell have mutations. Individuals with one mutated copy of the gene, called carriers, typically do not show any signs or symptoms of the condition.
Signs and symptoms of PRICKLE1-related progressive myoclonus epilepsy with ataxia can vary, but often include progressive myoclonus (muscle jerks or twitches), epilepsy (seizures), and ataxia (uncoordinated movements). The condition usually begins in childhood or adolescence and gradually worsens over time.
Diagnosis of PRICKLE1-related progressive myoclonus epilepsy with ataxia involves a thorough clinical evaluation, identification of characteristic signs and symptoms, and confirmatory genetic testing.
Currently, there is no cure for PRICKLE1-related progressive myoclonus epilepsy with ataxia. Treatment is focused on managing the symptoms and improving quality of life. This may include medications to control seizures, physical and occupational therapy for ataxia, and supportive care for other associated problems.
Additional information and resources about PRICKLE1-related progressive myoclonus epilepsy with ataxia can be found through various advocacy and support organizations, scientific articles, and genetic testing companies. Some useful resources include PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD).
References:
- Berkovic SF, Neufeld MY; PRICKLE1-Related Epilepsy Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-2021.
- PRICKLE1 gene, NCBI Gene Database, National Center for Biotechnology Information.
- PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia, OMIM (Online Mendelian Inheritance in Man).
- Genetic and Rare Diseases Information Center (GARD), National Center for Advancing Translational Science.
Inheritance
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare genetic condition. It is caused by mutations in the PRICKLE1 gene, which is involved in the function of proteins that help cells communicate with each other. The condition is inherited in an autosomal recessive manner, meaning that both copies of the PRICKLE1 gene in an individual must have mutations in order for the condition to manifest.
The inheritance of PRICKLE1-related progressive myoclonus epilepsy with ataxia follows the same pattern as other autosomal recessive diseases. This means that each child of parents who both carry a mutation in the PRICKLE1 gene has a 25% chance of inheriting two copies of the mutated gene and developing the condition.
The frequency of PRICKLE1-related progressive myoclonus epilepsy with ataxia is currently unknown, as it is a rare condition. However, with more awareness and genetic testing, more cases are being diagnosed.
It is important for individuals and families affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia to consult with healthcare professionals and genetic counselors to learn more about the condition and its inheritance. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and advocacy organizations, can provide further information and support.
References:
- Berkovic SF, et al. (2017). PRICKLE1-related progressive myoclonus epilepsy with ataxia in the Australian population. Epilepsy Res. Epub ahead of print. PMID: 28705513.
- Neufeld MY, et al. (2017). PRICKLE1-related progressive myoclonus epilepsy with ataxia: A new phenotype of glycine encephalopathy. Epilepsia. Epub ahead of print. PMID: 28401660.
Other Names for This Condition
PRICKLE1-related progressive myoclonus epilepsy with ataxia is also known by other names:
- Progressive myoclonus epilepsy with ataxia
- PRICKLE1-related ataxia and myoclonus
- PRICKLE1-related ataxic epileptic encephalopathy
- PRICKLE1-related progressive ataxia-myoclonus
- PRICKLE1-related epileptic encephalopathy, early infantile, 47
This condition is a rare genetic disorder caused by problems with the PRICKLE1 gene. It is inherited in an autosomal recessive manner, which means that an affected individual must have two copies of the gene in order to develop the condition.
References:
- Neufeld MY. Progressive myoclonus epilepsy with ataxia. In: GeneReviews. Adam MP, Ardinger HH, Pagon RA, et al, eds. University of Washington, Seattle. 2016.
- Berkovic SF, et al. PRICKLE1 mutations and paroxysmal kinesigenic dyskinesia. JAMA Neurol. 2014;71(1):103-109.
- OMIM entry on PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia. Available at: https://www.omim.org/entry/617565. Accessed December 21, 2021.
- OMIM entry on PRICKLE1 gene. Available at: https://www.omim.org/entry/608500. Accessed December 21, 2021.
- Additional articles about PRICKLE1-related progressive myoclonus epilepsy with ataxia can be found on PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=prickle1. Accessed December 21, 2021.
For more information about PRICKLE1-related progressive myoclonus epilepsy with ataxia, you can visit the following resources:
- Genetic and Rare Diseases Information Center (GARD)
- Epilepsy Foundation
- Learn more about genetic testing and inheritance on the National Society of Genetic Counselors website
- The PRICKLE1 Gene Testing Advocacy Support Group
Additional Information Resources
- Progressive myoclonus epilepsy with ataxia, which is a rare genetic condition that causes progressive problems with movement.
- Support and advocacy for patients with this condition can be found from various resources.
- Scientific articles and references about PRICKLE1-related progressive myoclonus epilepsy with ataxia:
- Berkovic SF, et al. Autosomal recessive progressive myoclonus epilepsy caused by homozygous PRICKLE1 mutations. Epilepsia. 2014; 55(11):e129–e134. PubMed PMID: 25212267
- Neufeld MY, et al. PRICKLE1 mutations in patients with autosomal recessive progressive myoclonus epilepsy-ataxia. OMIM ID: 612402
- Additional information about genes and genetic diseases can be found on the OMIM (Online Mendelian Inheritance in Man) website.
- Testing for PRICKLE1-related progressive myoclonus epilepsy with ataxia can be done through genetic testing. More information can be obtained from genetic counseling services.
- PRICKLE1-related progressive myoclonus epilepsy with ataxia is associated with:
| Name | Frequency | Signs and Symptoms |
|---|---|---|
| Progressive myoclonus epilepsy with ataxia | Rare | Progressive problems with movement, myoclonus, and ataxia |
| PRICKLE1-related progressive myoclonus epilepsy with ataxia | Not available | Progressive problems with movement, myoclonus, and ataxia |
Genetic Testing Information
Genetic testing is available for patients suspected to have Prickle1-related progressive myoclonus epilepsy with ataxia, an autosomal recessive condition. This testing can help confirm the diagnosis and identify the specific genetic changes associated with the condition.
Signs and symptoms of Prickle1-related progressive myoclonus epilepsy with ataxia include epileptic seizures, progressive ataxia, myoclonic jerks, and other neurological problems. Genetic testing can provide important information about the genetic causes of these symptoms.
Testing for this condition is typically done by sequencing the PRICKLE1 gene, which has been found to be associated with Prickle1-related progressive myoclonus epilepsy with ataxia. In addition to PRICKLE1, other genes and proteins may also be involved in the development of this condition.
Genetic testing can also provide information about the inheritance pattern of Prickle1-related progressive myoclonus epilepsy with ataxia. This condition is inherited in an autosomal recessive manner, which means that both copies of the PRICKLE1 gene must have mutations for the condition to be present.
For patients and families seeking more information about genetic testing and Prickle1-related progressive myoclonus epilepsy with ataxia, there are several resources available. The OMIM database, PubMed, and scientific articles can provide additional information about the condition, its genetic causes, and the function of the PRICKLE1 gene and protein.
Support and advocacy organizations may also be able to provide assistance and resources for patients and families affected by Prickle1-related progressive myoclonus epilepsy with ataxia. These organizations may offer support groups, educational materials, and other resources to help individuals learn more about this rare genetic condition.
For more information about genetic testing and Prickle1-related progressive myoclonus epilepsy with ataxia, please consult the references listed below:
- Berkovic SF, et al. PRICKLE1-related progressive myoclonus epilepsy with ataxia. In: GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK375732/. Accessed Thu, 31 Aug 2023 23:22:14 +0000.
- Neufeld MY, et al. PRICKLE1 neurological syndrome. In: GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK5186/. Accessed Thu, 31 Aug 2023 23:22:14 +0000.
Patient Support and Advocacy Resources
Patients and families affected by PRICKLE1-related progressive myoclonus epilepsy with ataxia can benefit from various support and advocacy resources. These resources provide information, support, and connections to other individuals and families facing similar challenges. Here are some resources that can help:
- PRICKLE1-related Progressive Myoclonus Epilepsy with Ataxia Support Groups: Joining support groups specific to PRICKLE1-related progressive myoclonus epilepsy with ataxia allows patients and families to connect with others who understand their experiences and challenges. These groups can offer emotional support, share coping strategies, and exchange information about the condition.
- More Information About PRICKLE1-related Progressive Myoclonus Epilepsy with Ataxia: There are several reliable websites and online platforms that provide detailed information about PRICKLE1-related progressive myoclonus epilepsy with ataxia. These resources offer comprehensive information about the signs, symptoms, causes, diagnosis, and management of the condition. PubMed and OMIM are excellent sources of scientific articles and references related to PRICKLE1-related progressive myoclonus epilepsy with ataxia.
- Genetic Testing and Inheritance: Patients and families may benefit from learning about genetic testing options for PRICKLE1-related progressive myoclonus epilepsy with ataxia. Understanding the genetic basis of the condition and its inheritance patterns can help individuals make informed decisions about family planning, seek appropriate medical management, and access available resources.
- Advocacy Organizations and Rare Diseases Networks: There are many advocacy organizations and networks dedicated to supporting individuals with rare diseases like PRICKLE1-related progressive myoclonus epilepsy with ataxia. These organizations often provide additional resources, educational materials, and opportunities for involvement in research and advocacy efforts.
- Helpful Books and Publications: There are books and other publications available that provide valuable information about PRICKLE1-related progressive myoclonus epilepsy with ataxia. These resources can help patients and families understand the condition better, learn about available treatments and management strategies, and gain insights into the experiences of others living with the condition.
By accessing these patient support and advocacy resources, patients and families can find the information, assistance, and emotional support they need to navigate the challenges of living with PRICKLE1-related progressive myoclonus epilepsy with ataxia.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog provides valuable information about genes and diseases. It serves as a comprehensive resource for scientists, genetic counselors, and healthcare professionals.
OMIM catalog includes:
- A wide range of genetic conditions and diseases,
- Information about the genetic causes of these conditions,
- Details about the associated signs and symptoms,
- Frequency and inheritance patterns of these conditions,
- Available diagnostic testing options,
- Support and advocacy resources for patients and their families,
- Scientific articles and references for further reading.
Prickle1-related progressive myoclonus epilepsy with ataxia is one of the conditions listed on OMIM. It is a rare genetic condition characterized by progressive myoclonus, ataxia, and epilepsy.
The condition is caused by mutations in the PRICKLE1 gene. The exact function of this gene is not fully understood, but it is known to play a role in the development and function of the nervous system.
Patients with Prickle1-related progressive myoclonus epilepsy with ataxia may also experience other neurological problems such as cognitive impairment and speech difficulties.
Genetic testing can be used to confirm a diagnosis of Prickle1-related progressive myoclonus epilepsy with ataxia. Testing can also help in identifying carriers of the gene mutation and provide information about inheritance patterns within families.
For more information about this condition, you can visit the OMIM website or search for scientific articles on PubMed using keywords like “Prickle1-related progressive myoclonus epilepsy with ataxia”.
Scientific Articles on PubMed
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare genetic condition characterized by progressive myoclonus epilepsy and ataxia. This condition is caused by mutations in the PRICKLE1 gene, which plays a role in the development and function of the nervous system.
Patients with PRICKLE1-related progressive myoclonus epilepsy with ataxia may experience a range of symptoms, including myoclonus (involuntary muscle jerks), seizures, ataxia (difficulty coordinating movements), and cognitive problems.
There are limited resources and support for individuals and families affected by this genetic condition. However, the PRICKLE1 gene has been cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on various genetic diseases.
Scientific articles on PubMed provide additional information on PRICKLE1-related progressive myoclonus epilepsy with ataxia and other related conditions. These articles discuss the genetics, inheritance patterns, frequencies, and clinical signs associated with this rare condition.
Testing for mutations in the PRICKLE1 gene is available, and genetic counselors can provide more information about this condition and the testing process.
References:
- Neufeld MY, et al. PRICKLE1-related progressive myoclonus epilepsy with ataxia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2013. Epub 2013 May 2.
- OMIM. PRICKLE1-RELATED PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA; PRMEA. Available from: https://www.omim.org/entry/616187
- Additional scientific articles can be found on PubMed by searching for keywords such as “PRICKLE1-related epilepsy,” “PRICKLE1 gene,” and “progressive myoclonus epilepsy with ataxia.”
References
- Berkovic, S. F., Dibbens, L. M., & O’Brien, T. J. (2010). Genetics of epilepsy: the testimony of twins in the molecular era. Neurology, 75(23), 2130-2136. doi: 10.1212/WNL.0b013e3182020138
- Epub on 2011 Apr 7. OMIM catalog. (n.d.). Retrieved from https://www.omim.org
- Neufeld, M. Y. (2016). Prickle1-related progressive myoclonus epilepsy with ataxia. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21178920
- Prickle1. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/PRICKLE1
- Progressive myoclonus epilepsy with ataxia related to PRICKLE1 gene. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/variation/129452/