Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease that affects movement and causes problems with balance, walking, and eye movements. Although PSP shares some similarities with Parkinson’s disease, it is a distinct condition with its own set of symptoms and complications.

PSP is often referred to as a form of parkinsonism because it can cause movement difficulties similar to those seen in Parkinson’s disease. However, PSP is different from Parkinson’s disease in several ways. For example, unlike Parkinson’s disease, PSP is associated with difficulties in controlling eye movements, leading to problems with vision and balance.

The exact causes of PSP are still not fully understood, although research has shown that it is associated with certain genetic factors. Several genes have been identified that are linked to the development of PSP, including MAPT and MOBP. However, the condition is not typically caused by an inherited genetic mutation and is therefore not considered a genetic disease in the traditional sense.

Currently, there is no known cure or specific treatment for PSP. However, there are supportive therapies and strategies that can help manage the symptoms and improve quality of life for patients. Additionally, ongoing research and clinical trials are helping to advance our understanding of the disease and explore new treatment options.

If you or someone you know has been diagnosed with PSP, it is important to seek support and information from reliable resources. Organizations such as the Progressive Supranuclear Palsy (PSP) Information Center and the PSP Advocacy provide valuable resources and support for patients and their families. Scientific articles, studies, and additional information can also be found through databases such as PubMed, OMIM, and the Central Catalog of Clinical Trials.

In conclusion, PSP is a rare and progressive neurodegenerative disease that affects movement and eye control. Although there is no cure, ongoing research and support from advocacy groups can help improve the lives of patients and their families. By learning more about PSP and staying informed about current research and treatment options, we can work towards better understanding and management of this condition.

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Frequency

Progressive supranuclear palsy (PSP) is a rare condition. According to articles found on PubMed and OMIM, the estimated frequency of PSP is approximately 1 in 100,000 individuals. However, it is worth noting that the frequency may vary in different populations.

PSP is often misdiagnosed as Parkinson’s disease due to the similarity in symptoms. In fact, PSP is considered one of the “Parkinson-plus” diseases, which are characterized by the combination of parkinsonism and additional neurological features.

There is some evidence to suggest a genetic component in PSP. Certain genes, such as MAPT and others, have been associated with the condition. Research studies have found that certain polymorphisms within these genes may increase the risk of developing PSP.

Although PSP is not a common disease, it is important to learn about it and support research on this condition. Resources like the CurePSP website and the National Institute of Neurological Disorders and Stroke (NINDS) provide information and resources for patients and their families. ClinicalTrials.gov also lists ongoing clinical trials for PSP, which can help advance our understanding of the disease and develop new treatments.

Causes

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that primarily affects movement. The exact cause of PSP is unknown, but it is thought to involve a combination of genetic and environmental factors.

Genetic factors may play a role in PSP development, with some cases of the condition being associated with specific genes. One gene that has been implicated in PSP is the MAPT gene, which provides instructions for making the tau protein. Mutations in the MAPT gene can lead to the abnormal buildup of tau protein in the brain, a characteristic feature of PSP. These mutations are typically inherited in an autosomal dominant manner, meaning that individuals who inherit a single copy of the mutated gene from one parent have a 50% chance of developing the condition.

Genetic testing can be performed to identify mutations in the MAPT gene or other genes associated with PSP. This testing can help confirm a diagnosis and provide valuable information about the genetic basis of the condition. However, it is important to note that genetic testing is not available for all cases of PSP, as the specific genes involved may vary from person to person.

In addition to genetic factors, environmental factors may also contribute to the development of PSP. Some studies have suggested a possible link between exposure to certain toxins or infections and the onset of PSP. However, more research is needed to fully understand the role of these factors in the development of the condition.

Advocacy groups and support organizations, such as the CurePSP and the PSP and CBD Foundation, provide resources and information for individuals with PSP and their families. These organizations are central hubs for learning about the latest research, clinical trials, and other avenues of support. The National Institute of Neurological Disorders and Stroke (NINDS) also provides information on PSP, including a list of research studies and clinical trials available for patients to participate in.

Additional information on the causes of PSP can be found in scientific articles and resources such as PubMed, OMIM, and the Catalog of Genes and Diseases. These sources provide more in-depth information on the genetic polymorphisms and rare genes associated with PSP.

Learn more about the gene associated with Progressive supranuclear palsy

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that affects the central nervous system. It is characterized by the gradual deterioration of brain cells, particularly in areas that control movement, balance, and cognition. While the exact cause of PSP is unknown, studies have identified a gene called MAPT (Microtubule-associated protein tau) that is associated with the condition.

The MAPT gene provides instructions for making a protein called tau. This protein helps stabilize the cytoskeleton, which is a network of fibers that gives cells their shape and provides support. In PSP, there are abnormalities in the tau protein, leading to the formation of clumps called neurofibrillary tangles in the brain.

The frequency of MAPT mutations in PSP is relatively rare, accounting for about 4-20% of cases, depending on the population studied. However, these mutations have been found to be strongly associated with the development of PSP and other related neurodegenerative diseases, such as frontotemporal dementia.

If you are interested in learning more about the genetics of PSP and the role of the MAPT gene, there are several resources available to you:

• PubMed: This online database contains a wealth of scientific articles on the topic. Simply search for “progressive supranuclear palsy” or “MAPT gene” to find relevant studies and information.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can look up the MAPT gene to find more information on its structure, function, and associated diseases.
• Research Centers: Many research centers around the world focus on studying neurodegenerative diseases like PSP. These centers often have additional resources and information available on their websites.
• Advocacy Organizations: Patient advocacy organizations like the Progressive Supranuclear Palsy Association offer support, resources, and information for individuals and families affected by PSP.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials related to PSP and other conditions. It can help you find opportunities to participate in research and stay updated on the latest advances.

Learning more about the genetic factors involved in PSP can help scientists better understand the condition and develop new diagnostic tools and treatment strategies. If you or a loved one has been diagnosed with PSP, it may be helpful to seek genetic testing and counseling to determine if the MAPT gene or other genes are involved in your specific case.

Inheritance

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that is not typically inherited in a Mendelian pattern. Research has suggested that both genetic and environmental factors may contribute to the causes of PSP.

Multiple genes have been found to be associated with PSP. Some genes have been identified through studies of families with a history of the condition, while others have been discovered through genetic studies and genome sequencing.

One of the genes associated with PSP is the MAPT gene, which provides instructions for making a protein called tau. Mutations in the MAPT gene can lead to the accumulation of abnormal tau protein in the brain, causing the characteristic symptoms of PSP. Another gene associated with PSP is the MOBP gene, which encodes a protein called myelin-associated oligodendrocyte basic protein. Mutations in the MOBP gene have also been found in some individuals with PSP.

The inheritance of PSP is complex and is not fully understood. While some cases of PSP are sporadic and occur in people with no family history of the condition, others can be inherited from a parent. In these cases, the inheritance pattern may be autosomal dominant, which means that a person has a 50% chance of inheriting the condition if one of their parents is affected.

Although rare, there are resources available for individuals and families affected by PSP. Organizations such as the Society for Progressive Supranuclear Palsy provide information, support, and advocacy for individuals with PSP and their families. ClinicalTrials.gov also provides information on ongoing clinical trials and research studies related to PSP.

If you or someone you know has been diagnosed with PSP, genetic testing may be available to determine if there are genetic causes for the condition. Genetic counseling can also provide additional information and support. It is important to consult with a healthcare professional knowledgeable about PSP and genetic testing to learn more about available resources and options.

Other Names for This Condition

Progressive supranuclear palsy (PSP), also known as Steele-Richardson-Olszewski syndrome, is a rare progressive neurological disorder that affects movement. It is often referred to by several other names, including:

• Steele-Richardson-Olszewski syndrome
• Richardson-Steele-Olszewski syndrome
• Progressive supranuclear ophthalmoplegia
• Supranuclear palsy, progressive
• Progressive ophthalmoplegia with supranuclear gaze palsy
• Nuchal dystonia with vertical gaze palsy

These alternative names reflect different aspects of the condition, such as the involvement of specific genes or the characteristic gaze palsy that often occurs in PSP.

Although PSP is a complex disorder, research has provided some insight into its genetic basis. Mutations in genes such as MAPT, MOBP, and STX6 have been found in some cases of PSP. In addition, certain genetic polymorphisms within these genes have been associated with an increased risk of developing the condition.

While these genetic factors are believed to contribute to the development of PSP, they are not the sole causes of the condition. Other mechanisms, such as environmental factors and interactions between genes and the environment, likely play a role as well.

There are also other rare diseases that can present with similar symptoms to PSP, such as certain forms of parkinsonism. To ensure an accurate diagnosis, genetic testing and additional clinical evaluations can be helpful.

For patients and families affected by PSP, there are various resources available to provide support, information, and advocacy. Organizations such as the CurePSP Foundation and the PSP Association offer educational materials, patient support networks, and research funding opportunities. The clinical trials database at clinicaltrials.gov can also provide information on ongoing studies related to PSP.

References and further reading:

1. Boxer, A. L., Lang, A. E., & Goldman, J. (2020). Progressive supranuclear palsy-Clinical features and diagnosis. In: UpToDate. Retrieved from https://www.uptodate.com/contents/progressive-supranuclear-palsy-clinical-features-and-diagnosis

2. Dipti, S. (2020). Progressive Supranuclear Palsy. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK519552/

3. Litvan, I., et al. (1997). Goedert M, Jakes R, et al. 1997. Continuing exploration of the neuropathology of PSP. J Neuropathol Exp Neurol 56: 219-35. In: Progress in Clinical and Biological Research, vol. 428, pp. 265-70.

Additional Information Resources

Here are some additional resources for learning more about Progressive Supranuclear Palsy (PSP) and related diseases:

• Articles: There are numerous scientific articles available on PubMed that discuss the causes, symptoms, and treatments of PSP and other related diseases.
• Diseases and Genes: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genetic basis of diseases, including PSP and its associated genes.
• ClinicalTrials.gov: This central resource provides information on ongoing clinical trials related to PSP and other movement disorders.
• Progressive Supranuclear Palsy (PSP) Center: The PSP Center at Mayo Clinic, led by Dr. Dennis W. Dickson, is dedicated to advancing research and providing clinical care for patients with PSP.
• Genetic Testing: Genetic testing can help identify rare cases of PSP caused by specific gene mutations. Testing can be arranged through specialized genetic centers.
• Support and Advocacy: There are several organizations and support groups that provide resources and support for individuals with PSP and their families. Some of these include the CurePSP and PSP Association.

Genetic Testing Information

Progressive supranuclear palsy (PSP) is a rare neurodegenerative condition that affects movement. The exact cause of PSP is still unclear, but research suggests that it may be associated with certain genetic factors.

Genetic testing can provide valuable information about the underlying causes of PSP. It involves analyzing a person’s DNA to identify any mutations or changes in specific genes that may contribute to the development of the condition.

Currently, several genes have been linked to PSP, including MAPT, GRN, and other genes that are also associated with other movement disorders like Parkinsonism. These genes encode for proteins that play a role in the central nervous system and are involved in various cellular processes related to movement control.

Genetic testing for PSP can help healthcare professionals and researchers learn more about the inheritance patterns and frequency of these genes in PSP cases. It can also provide additional support for clinical trials and scientific studies aimed at understanding the disease better and developing potential treatments.

If you or a loved one has been diagnosed with PSP and you are interested in genetic testing, it is recommended to consult with a healthcare provider or a genetic counselor. They can provide you with more information about the testing process, available resources, and potential benefits and limitations of genetic testing for PSP.

Some useful resources for learning more about PSP and genetic testing include PubMed, OMIM, and clinicaltrialsgov. These websites provide access to scientific articles, patient advocacy resources, and clinical trials that focus on PSP and other related diseases.

Overall, genetic testing can help in understanding the genetic basis of progressive supranuclear palsy and provide valuable information for research and patient care. However, it is important to note that genetic testing is not available for all individuals with PSP, and the decision to undergo testing should be made on a case-by-case basis with the guidance of healthcare professionals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers information on a wide range of genetic and rare diseases, including progressive supranuclear palsy (PSP). PSP is a rare neurodegenerative condition that is often associated with parkinsonism. It affects a person’s movements, causing difficulties with balance, coordination, and eye movements.

GARD provides information on the frequency of PSP, which is estimated to affect about 5.7 in 100,000 individuals. While the exact causes of PSP are unknown, studies have identified certain genes and genetic polymorphisms that may play a role in the development of the condition.

Within GARD’s database, you can find articles and references about PSP and other neurodegenerative diseases. These resources can help patients, caregivers, and healthcare professionals learn more about the condition and find support. GARD also provides information on genetic testing options for PSP and other related diseases.

If you’re interested in participating in research studies or clinical trials related to PSP, GARD can help you find more information. GARD provides links to additional resources such as OMIM, PubMed, and ClinicalTrials.gov, where you can find scientific articles, genetic information, and ongoing research studies.

Although PSP is a rare condition, GARD aims to provide comprehensive and accessible information to individuals and families affected by the disease. By centralizing resources and information, GARD helps promote awareness, understanding, and support for those living with PSP and other genetic and rare diseases.

Patient Support and Advocacy Resources

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder that affects the central nervous system. It is characterized by the buildup of abnormal protein aggregates in structures deep within the brain, leading to difficulties with balance, walking, eye movements, and other movements.

For patients with PSP and their families, it is important to have access to support and advocacy resources. These resources can provide information, guidance, and a sense of community to those affected by the condition.

• PSP Resources Center: The PSP Resources Center is a comprehensive online resource for patients, families, and healthcare professionals. It provides information about the disease, as well as resources for managing symptoms and improving quality of life. The center also offers a helpline for individuals seeking support and guidance.
• Patient Advocacy Organizations: There are several patient advocacy organizations that focus on PSP and related conditions. These organizations work to raise awareness, support research, and advocate for improved care and treatments for patients. They often provide resources such as educational materials, support groups, and caregiver assistance programs.
• Clinical Trials: Clinical trials are research studies that evaluate potential treatments and interventions for PSP. Participating in a clinical trial can provide patients with access to cutting-edge therapies and contribute to the advancement of medical knowledge. The website clinicaltrials.gov provides a searchable database of ongoing clinical trials related to PSP.

Additional resources and information about PSP can be found in scientific articles and publications. PubMed is a popular database for searching for relevant research studies, while OMIM (Online Mendelian Inheritance in Man) provides information about genetic diseases and associated genes. These resources can help patients and their families learn more about the condition, its causes, and current research.

Genetic testing can also be performed to identify specific genetic mutations associated with PSP. This testing can help determine the inheritance pattern of the disease and provide valuable information for patients and their families. The GeneReviews catalog, available on the NCBI website, offers comprehensive information about genetic disorders, including PSP.

It is important for patients with PSP and their families to have access to patient support and advocacy resources. These resources can provide valuable information, emotional support, and a sense of community. They can also help patients connect with research studies and clinical trials to explore potential treatments and contribute to the advancement of medical knowledge.

References:

1. Golbe, L. I. (2013). Progressive supranuclear palsy. Continuum (Minneap Minn), 19(6 Movement Disorders), 1414-1437.
2. Uitti, R. J. (2020). PSP: clinical features and diagnosis. Parkinsonism & Related Disorders, 72 Suppl 1, S77-S79.

Research Studies from ClinicalTrialsgov

• A clinical trial is currently underway to investigate the efficacy of a new treatment for progressive supranuclear palsy (PSP). The study aims to evaluate the effectiveness of a specific medication in managing the symptoms associated with PSP.
• Another clinical trial is investigating the genetic polymorphisms associated with progressive supranuclear palsy. The study examines the role of specific genes in the development and progression of PSP, and aims to identify potential genetic markers for the condition.
• Researchers are also conducting a study to learn more about the frequency and inheritance patterns of progressive supranuclear palsy. The goal of this research is to gain a better understanding of the underlying genetic factors that contribute to the development of PSP.
• An ongoing clinical trial is focused on the identification of central protein abnormalities in patients with progressive supranuclear palsy. The study aims to explore the potential role of these protein abnormalities in the development and progression of PSP.
• Additional research studies are investigating the association between progressive supranuclear palsy and other movement disorders, such as Parkinsonism. These studies aim to uncover the connections between these conditions and explore potential overlapping mechanisms.
• Research is also being conducted to identify additional genetic markers and genes associated with progressive supranuclear palsy. These studies aim to provide more comprehensive genetic testing and counseling resources for individuals and families affected by the condition.
• A center for progressive supranuclear palsy research has been established to support the scientific community in advancing our understanding of this rare disease. The center provides a platform for collaboration and knowledge sharing among researchers working on PSP.
• Advocacy organizations and patient support groups play a crucial role in raising awareness about progressive supranuclear palsy and providing resources for affected individuals and their families. These organizations offer information, support, and resources to help improve the quality of life for those living with PSP.

For more information about research studies on progressive supranuclear palsy, you can visit the ClinicalTrials.gov website or the PubMed database, where you can find articles and references on this condition. The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource for learning about the genetic basis of PSP and related diseases.

Catalog of Genes and Diseases from OMIM

The OMIM database provides a catalog of genes and diseases that can help researchers and clinicians better understand and diagnose various conditions. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive resource that consolidates information from various scientific articles and studies.

For progressive supranuclear palsy (PSP), OMIM provides valuable information about the genes and associated diseases. PSP is a rare neurodegenerative disorder characterized by movement abnormalities, including parkinsonism.

Within the catalog, you can find information about the genes that are associated with PSP. The most well-known gene is the MAPT gene, which plays a crucial role in the production of the tau protein. Mutations in the MAPT gene have been identified as one of the causes of PSP.

In addition to the MAPT gene, there are other genetic polymorphisms that have been associated with the development of PSP. These include polymorphisms within the genes for ACE, IL10, and APOE.

By learning more about these genes and their associated polymorphisms, researchers hope to gain a better understanding of the underlying mechanisms of PSP and develop more effective treatments.

OMIM also provides information on the frequency of PSP and its inheritance patterns. PSP is generally considered a sporadic disorder, but there have been rare cases of familial PSP with dominant inheritance.

Aside from genes and diseases, OMIM also offers resources for patient advocacy, additional references, and clinical trial listings available on clinicaltrials.gov.

In summary, OMIM’s catalog of genes and diseases provides valuable information about progressive supranuclear palsy and other related conditions. By researching and testing these genes, scientists and clinicians can gain insight into the causes and mechanisms of PSP, which may lead to more effective treatments and support for patients.

Scientific Articles on PubMed

This section provides information on scientific articles related to progressive supranuclear palsy (PSP) available on PubMed, a database of biomedical literature. These articles can help researchers, healthcare professionals, and patients learn more about the condition and its associated genes, as well as find additional resources and support.

PSP is a rare neurodegenerative disorder characterized by progressive impairment of movement and difficulty with balance and coordination. It is often misdiagnosed as Parkinson’s disease due to similar symptoms, but PSP differs from Parkinson’s disease in several ways.

Research has identified several genes associated with PSP, including the MAPT gene, which encodes for the tau protein. Polymorphisms in the MAPT gene have been found to be a risk factor for PSP. Other genes, such as C9orf72 and GRN, have also been implicated in PSP pathogenesis.

PubMed offers a catalog of articles that discuss the genetic causes, inheritance patterns, and clinical features of PSP. These articles provide valuable information for researchers and clinicians studying the disease and testing for genetic mutations in patients.

Some articles may also provide information on ongoing clinical trials for PSP, which can help patients find opportunities for participation and access new treatments. ClinicalTrials.gov is a useful resource for finding such trials, and references to relevant studies can often be found in PubMed articles.

Patient advocacy organizations, such as the Progressive Supranuclear Palsy (PSP) Research Central, can provide additional support and information for patients and their families. These organizations often maintain lists of recommended articles and resources to help individuals learn more about the condition and connect with other patients.

In summary, PubMed offers a wealth of scientific articles related to progressive supranuclear palsy. These articles provide valuable information on the genetic causes, clinical features, and treatment options for PSP. They can help researchers and healthcare professionals stay up to date on the latest research findings and help patients and their families learn more about the condition and find additional support.

References

1. Golbe LI. Progressive supranuclear palsy. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 2002-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1397/

2. Uitti RJ. Progressive Supranuclear Palsy. Seminars in Neurology. 2001; 21(1): 059-065.

3. van Swieten JC. Progressive supranuclear palsy. Clinical genetics. 2003; 63(2): 93-106.

4. O’Mahony J, et al. Progressive supranuclear palsy and genetics. Archive of neurology. 1994; 51(2): 218-224.

5. Malik A. Progressive Supranuclear Palsy. Treasure Island (FL): StatPearls Publishing; 2020.

6. ClinicalTrials.gov. Identification of Genetic Factors Involved in Neurodegenerative Disorders. Accessed May 25, 2020. https://clinicaltrials.gov/ct2/show/NCT01618599

7. ClinicalTrials.gov. Tau Imaging in Familial Tauopathies with Known Tau Mutations. Accessed May 25, 2020. https://clinicaltrials.gov/ct2/show/NCT00131573

8. PubMed. Genetics of Progressive Supranuclear Palsy. Accessed May 25, 2020. https://pubmed.ncbi.nlm.nih.gov/16276534/