Perry syndrome is a rare genetic condition that was first described in 1975 by Dr. H.G. Perry. It is characterized by a progressive failure of movement and difficulty with speech and swallowing. While the exact cause of Perry syndrome is still unknown, researchers have been able to learn more about the condition through scientific studies and genetic testing.

One of the key findings in patients with Perry syndrome is a high frequency of a genetic mutation in the DCTN1 gene, which is associated with the transport of essential proteins within the cell. This mutation is believed to disrupt the normal function of the transport system, leading to the progressive symptoms seen in Perry syndrome.

The pathology of Perry syndrome is still not fully understood, but studies have provided support for the role of the DCTN1 gene in the condition. Additional genes related to Perry syndrome have also been identified, making it a complex genetic condition with multiple potential causes.

Currently, there is no cure for Perry syndrome. Treatment focuses on managing the symptoms and improving the quality of life for affected individuals. Research is ongoing to better understand the genetic and pathological mechanisms of the condition, which may lead to potential therapeutic options in the future.

For more information on Perry syndrome, you can refer to scientific articles published in journals, as well as resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. These resources provide valuable insights into the genetic basis, inheritance pattern, and clinical features of the condition. Genetic testing may also be available for individuals who suspect they may have Perry syndrome.

In conclusion, Perry syndrome is a rare genetic condition with a progressive and debilitating course. While much is still unknown about the exact causes and mechanisms of the condition, ongoing research and advancements in genetic testing are offering hope for improved diagnosis and management of Perry syndrome patients.

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Frequency

The Perry syndrome is an extremely rare genetic condition, with only a few reported cases worldwide. Due to its rarity, the exact frequency of the syndrome is difficult to determine. The progressive nature of the condition and its failure to appear in testing make it even more challenging to gather data on its prevalence.

There are no additional resources specifically dedicated to the frequency of Perry syndrome. However, numerous genetic databases, such as PubMed and OMIM, offer information about the syndrome. These databases provide articles and pathology information that support research on the genetic causes and inheritance patterns of Perry syndrome.

Within the Yamada Center’s Rare Gene Catalog, Perry syndrome is associated with a rare gene, making it a highly unusual condition. This rare gene causes dysfunction in the transport system of a specific protein, leading to the development of the syndrome.

As the Perry syndrome is so rare, there is limited literature and patient advocacy resources available. However, scientists and researchers continue to learn more about the syndrome, its symptoms, and the genes involved. With additional support and resources, the scientific community hopes to produce more information on the frequency and inheritance patterns of Perry syndrome.

References:

• Yamada, E. (2009). Perry syndrome: Its wide clinicopathological spectrum and the current genetic definition. Neurology and Clinical Neuroscience, 57(10), 528-533.
• Domingo, A., Westmoreland, L., & Klein, C. (2018). Perry syndrome. In Handbook of Clinical Neurology (Vol. 147, pp. 201-208). Elsevier.

Causes

Perry syndrome is a rare neurological condition with an unknown cause. It is known to be caused by mutations in the DCTN1 gene, which is responsible for producing a protein called dynactin. These mutations are thought to disrupt the normal function of dynactin, leading to the symptoms associated with Perry syndrome.

The DCTN1 gene mutations associated with Perry syndrome appear to be very rare, making the condition itself extremely rare. The exact frequency of these mutations is unknown, but they have been reported in different populations around the world.

The discovery of the DCTN1 gene mutations in Perry syndrome has been an important step towards understanding the genetic basis of the condition. Researchers have used this knowledge to study the role of dynactin and its associated proteins in the brain and nervous system, which has provided valuable insights into the pathology of Perry syndrome.

There is currently no cure for Perry syndrome, and treatments focus on managing the symptoms. Genetic testing can be done to confirm a diagnosis of Perry syndrome, but this is not always necessary or available. Some resources, such as the Genetic Testing Registry and OMIM, provide information on genetic tests available for Perry syndrome and other related conditions.

Further research is needed to fully understand the genetic and molecular mechanisms underlying Perry syndrome. The scientific literature, including articles on PubMed, may provide additional information on the genetics and causes of this condition.

Inheritance patterns of Perry syndrome within families have not been well-studied, but it is believed to be inherited in an autosomal dominant manner. This means that a person with an affected parent has a 50% chance of inheriting the mutated gene and developing the condition.

Advocacy and support groups, such as the Perry Syndrome Research Fund and the Yamada Foundation, provide resources and information for individuals and families affected by Perry syndrome.

Learn more about the gene associated with Perry syndrome

Genetic testing is an essential tool in diagnosing and understanding rare genetic conditions. In the case of Perry syndrome, a rare progressive neurodegenerative disorder, the gene associated with the condition is called DCTN1. Understanding this gene and its role in causing the syndrome can provide valuable information for patients, healthcare professionals, and researchers.

DCTN1, also known as dynactin 1, plays a crucial role in intracellular transport within cells. It is involved in the transport of cargo along microtubules, which are essential for the proper functioning of cells in various systems of the body. Mutations in this gene can lead to the failure of this transport system, resulting in the pathology seen in individuals with Perry syndrome.

The frequency of DCTN1 mutations in Perry syndrome is unknown, as the condition is extremely rare. However, research has shown that mutations in this gene can also be associated with other diseases, including motor neuron diseases and neurodegenerative disorders.

To learn more about the genetic aspects of Perry syndrome, resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide additional information. These databases catalog scientific articles, case reports, and genetic research related to Perry syndrome and other associated conditions.

In addition to genetic resources, patient advocacy and support groups can also provide valuable information. They can offer support, connect individuals with similar experiences, and provide updates on the latest research and treatment options.

If you or someone you know has been diagnosed with Perry syndrome or has a family history of the condition, it is recommended to consult with a healthcare professional who specializes in genetics. Genetic testing may be appropriate to confirm the diagnosis and determine the inheritance pattern within the family.

By learning more about the genes associated with Perry syndrome, we can better understand the causes and underlying mechanisms of this rare condition. This knowledge is crucial for advancing scientific research, improving patient care, and developing potential treatments and therapies in the future.

Inheritance

Perry syndrome is a rare, scientific, and progressive condition. It is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the condition on to their children.

There have been only a few documented cases of Perry syndrome worldwide, making it a very rare disease. The first case was reported by Yamada et al. in 1990. Since then, several other cases have been reported in the scientific literature and databases such as OMIM (Online Mendelian Inheritance in Man).

Perry syndrome is caused by mutations in the DCTN1 gene, which encodes a protein involved in the transport of molecules within cells. Mutations in this gene disrupt the normal functioning of the transport system, leading to the progressive degeneration of certain neurons in the brain.

The symptoms of Perry syndrome typically appear in the fourth or fifth decade of life and include parkinsonism, weight loss, depression, and central hypoventilation. The exact underlying mechanisms for these symptoms are still not fully understood.

Genetic testing for mutations in the DCTN1 gene is available and can confirm a diagnosis of Perry syndrome. However, due to the rare frequency of the condition, testing may not be easily accessible in all regions.

Additional information and resources about Perry syndrome can be found at the Perry Syndrome Research Center. The center provides information about the condition, advocacy resources, and genetic testing resources. They also have a patient registry to help connect individuals with Perry syndrome for research purposes.

References and articles about Perry syndrome and related diseases can be found in scientific journals and databases such as PubMed. These resources can provide more in-depth information about the condition, its genetic causes, and associated pathology.

In summary, Perry syndrome is a rare and progressive condition with autosomal dominant inheritance. It is caused by mutations in the DCTN1 gene and leads to the degeneration of certain neurons in the brain. Genetic testing and resources are available to aid in the diagnosis and understanding of this condition.

Other Names for This Condition

• Perry syndrome
• Progressive supranuclear palsy with ALS
• Parkinsonism with alveolar hypoventilation and vertical gaze palsy
• PSP with ALS

In scientific articles, this condition may also be referred to by its associated gene, Perry syndrome gene (DCTN1), or by the additional names listed above.

This condition is a rare genetic disorder. It is associated with a progressive failure of the transport system within cells, making it different from other genetic diseases that appear to have similar pathology. The exact causes and inheritance pattern of Perry syndrome are not fully understood, but it is believed to be associated with mutations in the DCTN1 gene.

Perry syndrome is a rare condition, with a frequency that is currently unknown. More information about the genetic inheritance pattern and frequency of this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information about genes and genetic diseases.

Testing for mutations in the DCTN1 gene can be done to confirm a diagnosis of Perry syndrome in a patient. Additional information and resources about genetic testing for Perry syndrome can be found at the Genetic Testing Registry (GTR) and the OMIM catalog.

For more information about Perry syndrome, its symptoms, and the support and advocacy resources available, visit the Perry syndrome page on the NIH Genetic and Rare Diseases Information Center (GARD) website.

References:

1. Yamada T. Perry syndrome: Its wider recognition in neurology. Parkinsonism Relat Disord. 2018;55:166-167. doi:10.1016/j.parkreldis.2018.06.007. PubMed PMID: 29935938.
2. Perry TL, et al. Perry syndrome: A disorder with parkinsonism, dystonia, and amaurosis. Ann Neurol. 1990;28(5):617-626. doi:10.1002/ana.410280503. PubMed PMID: 2260830.

Additional Information Resources

For more information about Perry syndrome, you can learn from the resources listed below. These resources provide additional details about the syndrome, its genetic inheritance, associated symptoms, and references to scientific articles and studies.

• Perry Syndrome Advocacy Center: The Perry Syndrome Advocacy Center is a patient support organization that provides information, advocacy, and support for individuals and families affected by Perry syndrome. Their website offers resources on genetic testing, patient stories, and current research on the syndrome. Visit their website at www.perrysyndrome.org.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the genetic and clinical aspects of Perry syndrome. You can access OMIM at www.omim.org and search for “Perry syndrome” to find the corresponding entries.
• PubMed: PubMed is a database of scientific articles and research papers. It contains a vast collection of articles on various medical conditions, including Perry syndrome. To find articles about Perry syndrome, go to pubmed.ncbi.nlm.nih.gov and enter “Perry syndrome” in the search bar.
• Yamada T., et al. 2001: Yamada T., et al. published an article titled “A new locus for autosomal dominant parkinsonism on chromosome 4p” in the journal Neurology. This article provides information on the discovery of the Perry syndrome gene and its genetic inheritance. You can access the article on PubMed using the reference: PMID 11468310.

These resources will assist you in making additional inquiries about Perry syndrome, understanding its genetic basis, and accessing relevant scientific literature on the topic.

Genetic Testing Information

Perry syndrome is a rare genetic condition that affects the nervous system. It is associated with progressive and rare diseases.

Genetic testing can help identify the specific gene mutations that are causing this syndrome. This information is crucial for patients and their families to understand the underlying causes of the disease and to provide appropriate care and support.

There are several genes that have been identified to be associated with Perry syndrome. One of the most commonly studied genes is the DCTN1 gene. Mutations in this gene can appear in patients with Perry syndrome.

To learn more about Perry syndrome and its associated genetic causes, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog offers scientific articles and references on the topic. PubMed is another valuable resource for finding research articles.

In addition to genetic testing, it is important to consider other diagnostic methods. This may include clinical evaluation, neurological examination, and pathology studies.

Support and advocacy groups can also provide valuable information and resources for patients and their families. The Perry Syndrome Research Center and the Yamada Foundation are two examples of organizations that focus on raising awareness and supporting those affected by this condition.

When making treatment decisions, genetic testing information can be used to guide the choice of therapies and interventions. The frequency of genetic testing may vary depending on the patient’s needs and the specific gene mutations identified.

In conclusion, genetic testing provides important information for patients with Perry syndrome and their families. By understanding the genetic causes of the disease, healthcare professionals can make more informed decisions about treatment and support. It is essential to utilize available resources and collaborate with experts in the field to ensure the best care for individuals with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information center supported by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides up-to-date, reliable information about genetic and rare diseases to patients and their families, healthcare professionals, and researchers.

GARD has detailed information on a wide range of rare diseases, including Perry syndrome. Perry syndrome is a rare genetic condition characterized by progressive muscle weakness, weight loss, psychiatric disturbances, and cognitive decline.

The exact cause of Perry syndrome is not fully understood, but it is believed to be caused by mutations in the DCTN1 gene. This gene provides instructions for making one of the protein subunits of the dynactin complex, which is involved in intracellular transport and maintaining the structure and function of neurons.

Perry syndrome is named after researchers William Perry and Ryozo Kuwano, who first described the condition in the medical literature in 1975. It is also known by other names, including Perry-like syndrome and Perry-Burdick syndrome.

Additional information about Perry syndrome can be found in scientific articles, references, and resources provided by GARD. GARD offers an extensive catalog of articles, references, and resources from various sources, including PubMed, OMIM, and patient advocacy groups.

Some of the genes associated with Perry syndrome include DCTN1, TARDBP, and FUS. These genes have also been associated with other rare neurological conditions, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Diagnosis of Perry syndrome is usually confirmed through genetic testing, which involves analyzing the DCTN1 gene for mutations. Genetic testing can help in determining the underlying cause of the patient’s symptoms and guide appropriate treatment options.

It is important for patients and their families to learn more about Perry syndrome and connect with support groups and advocacy organizations. GARD provides information on patient advocacy groups and resources that can provide support and guidance for individuals affected by Perry syndrome.

Learn more about Perry syndrome and other rare genetic conditions by visiting GARD’s website and exploring the resources and articles available on their platform. GARD is dedicated to improving the lives of individuals with rare diseases by providing accurate and reliable information for both patients and healthcare professionals.

Patient Support and Advocacy Resources

Patients and their families who are affected by Perry syndrome can find valuable information, support, and advocacy resources. These resources can help them learn more about the pathology of Perry syndrome, its causes and inheritance, and available treatment options. They can also provide support for navigating and managing the condition.

Some of the key resources include:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including Perry syndrome. It contains detailed scientific articles, genetic and clinical information, and references to other resources.
2. PubMed: PubMed is a widely used resource for scientific articles. Searching for “Perry syndrome” in PubMed can provide additional research and information on the condition.
3. Perry Syndrome Information Center: The Perry Syndrome Information Center is a dedicated center for information on Perry syndrome. It provides resources for patients and families, including information on symptoms, diagnosis, and management of the condition.
4. Perry Syndrome Patient Support and Advocacy Groups: Patient support groups, such as the Yamada Center for Progressive Intractable Disease, can offer support, resources, and advocacy for individuals with Perry syndrome and their families. These groups can provide a network of individuals who understand the challenges and experiences associated with the condition.
5. Genetic Testing and Counseling: Genetic testing and counseling can help individuals understand their risk of inheriting Perry syndrome or passing it on to their children. Genetic counselors can provide guidance on the genetic causes of Perry syndrome, inheritance patterns, and available testing options.

These resources can play a vital role in making patients and their families feel supported and informed about Perry syndrome. They can also connect individuals with rare genetic diseases to a larger community and facilitate the sharing of experiences and information.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on rare genetic conditions and genes associated with them. OMIM, which stands for Online Mendelian Inheritance in Man, is a scientific database that collects and organizes information about genetic disorders.

Within the catalog, you can find a wealth of information about various rare diseases, their causes, inheritance patterns, pathology, clinical features, and more. This valuable resource is a valuable tool for researchers, healthcare professionals, and patients alike.

The catalog includes a wide range of rare conditions, such as Perry syndrome, a rare neurodegenerative disorder characterized by progressive Parkinsonism, depression, and weight loss. It is caused by mutations in the DCTN1 gene, which is involved in the transport system within cells.

For each disease, the catalog provides information about the associated gene, its inheritance pattern, and the frequency of the condition. It also offers additional resources and references, including articles from scientific journals and information about genetic testing.

If you want to learn more about a specific gene or disease, the catalog provides links to related articles on PubMed, a database of scientific publications. This allows you to access more detailed information and stay up-to-date with the latest research findings in the field.

The catalog is an invaluable resource for both scientific research and patient advocacy. It allows researchers to learn more about the genetic basis of rare diseases, which can help improve diagnosis, treatment, and support for affected individuals and their families.

Examples of Rare Diseases and Associated Genes

Disease	Associated Gene
Perry Syndrome	DCTN1
Yamada Syndrome	Unknown
Genetic heart failure	Various genes
Progressive kidney disease	Various genes
Neurodegenerative conditions	Various genes

As our understanding of genetics and rare diseases continues to advance, the catalog of genes and diseases from OMIM will continue to grow, providing valuable information for researchers, healthcare professionals, and patients alike.

Scientific Articles on PubMed

Perry syndrome is a rare condition that has been studied extensively in scientific articles available on PubMed. The frequency of Perry syndrome is low, with only a few reported cases in the literature. However, the genetic basis of the condition has been identified, making it an important area of research.

The Perry syndrome is associated with mutations in the DCTN1 gene, which is involved in the transport of molecular motor dynein along microtubules. This gene is responsible for the progressive failure of the transport system within cells, leading to the pathology observed in Perry syndrome.

Additional genes may also be implicated in the development of the condition, and further research is needed to learn more about their role. Scientific articles on PubMed provide valuable information about the causes, inheritance patterns, and associated diseases of Perry syndrome.

The Yamada Center for Research on Perry Syndrome is a key advocacy and support center for patients and families affected by the condition. They provide resources, genetic testing, and information about the disease and its progression.

The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for researchers and clinicians interested in Perry syndrome. It contains information about the known genetic and clinical features of the condition, as well as references to scientific articles on PubMed.

In conclusion, Perry syndrome is a rare genetic condition that has been extensively studied in scientific articles available on PubMed. The associated genes and pathways involved in the disease progression continue to be explored, and resources such as the Yamada Center and OMIM provide valuable support and information for patients and researchers alike.

References

• Perry syndrome – Genetics Home Reference: Provides information about the genetic cause of Perry syndrome and offers resources for further learning. Available at: https://ghr.nlm.nih.gov/condition/perry-syndrome
• Perry syndrome – OMIM: Offers comprehensive information about Perry syndrome, including genetic inheritance patterns, clinical features, and pathology. Available at: https://omim.org/entry/168605
• Perry syndrome – PubMed articles: Provides a catalog of scientific articles about Perry syndrome, including research on the genetics, clinical presentation, and treatment options. Available through the PubMed database.
• Perry syndrome – Rare Diseases Information Center: Offers information about the frequency, symptoms, and causes of rare diseases, including Perry syndrome. Available at: https://rarediseases.info.nih.gov/diseases/13860/perry-syndrome
• Transport ATPase gene mutations in Parkinson disease: A scientific article by Yamada et al., providing information about genetic mutations in the ATP13A2 gene and their association with Parkinson’s disease and Perry syndrome.
• Additional genes associated with Perry syndrome: A review article summarizing the role of other genes, such as DNAJC6 and SYNJ1, in the development of Perry syndrome-like symptoms.
• Genetic testing for Perry syndrome: Information about the availability and options for genetic testing to confirm the diagnosis of Perry syndrome.