Multiple system atrophy (MSA) is a rare neurodegenerative disease that affects the central nervous system, leading to a wide range of symptoms and progressive disability. It is characterized by the abnormal buildup of a protein called alpha-synuclein in various parts of the brain, resulting in the degeneration of neurons.

MSA is classified into two main subtypes: MSA-P, which primarily affects the coordination and movement centers of the brain, and MSA-C, which primarily affects the autonomic nervous system responsible for regulating involuntary functions such as blood pressure, digestion, and bladder control.

Diagnosing MSA can be challenging as its symptoms overlap with those of other neurological diseases. However, several tests and clinical evaluations can help in the diagnosis process, including genetic testing, imaging studies, and autonomic function testing.

Currently, there is no cure for MSA, and the treatment mainly focuses on managing the symptoms and improving the patient’s quality of life. Further research and scientific studies are needed to better understand the causes and potential treatment options for this rare disease.

For more information about MSA, its symptoms, causes, and available resources, you can refer to reputable references such as scientific articles, clinicaltrialsgov, OMIM, PubMed, and other advocacy centers like the Gilman Center for Rare and Genetic Diseases and the Wood-Sorbo Multiple System Atrophy Foundation.

Frequency

Multiple system atrophy (MSA) is a rare neurodegenerative disorder that affects multiple parts of the central and autonomic nervous systems. The exact frequency of this condition is not well established, but it is estimated to occur in about 3-5 per 100,000 people worldwide. MSA is more common in individuals of Asian descent compared to other populations.

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Although MSA is considered a rare condition, it is important to note that the frequency may vary depending on the specific region and population being studied. It is also worth mentioning that the diagnosis of MSA can be challenging and may often be misdiagnosed as other similar neurodegenerative diseases.

The frequency of MSA is generally higher in older individuals, with most cases occurring around the age of 50-60. It affects both men and women equally.

Genetic studies have shown that a small percentage of MSA cases are associated with specific gene abnormalities. These genetic abnormalities are rare and are not typically inherited in a Mendelian pattern. Additional research is needed to understand the exact role of these genes in the development of MSA.

Testing for genetic abnormalities associated with MSA is available, but it is not typically offered as part of routine clinical practice. Genetic testing may be considered in individuals with a strong family history of MSA or in cases where a specific genetic abnormality is suspected based on clinical presentation.

Patient advocacy groups and scientific research centers, such as the Gilman Center for Multiple System Atrophy and the Multiple System Atrophy Coalition, provide additional resources and support for individuals and families affected by MSA. These organizations offer information about the condition, clinical trials, support groups, and free testing resources.

References:

• Gilman, S. (2008). Multiple system atrophy: A review. Journal of Clinical Neuroscience, 15(6), 633-639.
• Bhatia, K., & Wood, N. (2004). Multiple system atrophy: A clinical and pathological perspective. Trends in Neurosciences, 27(11), 626-632.
• Sandroni, P. (2016). Autonomic involvement in multiple system atrophy. Handbook of Clinical Neurology, 139, 211-222.

This information is provided for educational purposes and is not intended as a substitute for professional medical advice. Consult your healthcare provider for guidance and information about your specific condition.

Causes

Multiple system atrophy (MSA) is a rare neurodegenerative disorder with an unknown cause. Scientists have conducted various studies and research to understand the underlying causes of this condition.

Research suggests that MSA may have a genetic component, as some cases of the disorder have been found to be associated with specific genes. For example, mutations in the COQ2 gene have been linked to MSA, causing mitochondrial dysfunction and impaired energy production in cells.

In addition to genetic factors, other abnormalities in the autonomic nervous system and central nervous system have also been associated with MSA. These abnormalities can disrupt the coordination and functioning of various parts of the body.

There are no specific diagnostic tests available for MSA, and its diagnosis is mainly based on clinical symptoms and history. However, certain tests and imaging studies, such as brain MRI and autonomic testing, can help in confirming the diagnosis.

Although the exact cause of MSA remains unknown, research and testing are ongoing to learn more about this complex condition. Genetic testing, autonomic testing, and other scientific research are being conducted to understand the underlying mechanisms and identify potential therapeutic targets.

References to scientific articles and research related to the causes of MSA can be found in databases such as PubMed, OMIM, and the MSA Research Center catalog. These resources provide additional information on the condition and its associated genetic changes.

Advocacy organizations and patient support groups also offer resources and information on MSA and its causes. These organizations aim to raise awareness, provide support, and promote research for the better understanding and management of this rare disease.

For more information about the causes of multiple system atrophy and ongoing research studies, you can visit the ClinicalTrials.gov website or consult with healthcare professionals specialized in neurodegenerative diseases.

Learn more about the genes associated with Multiple system atrophy

Multiple system atrophy (MSA) is a rare neurodegenerative disorder that affects multiple parts of the central nervous system, including the autonomic system. It is characterized by a combination of symptoms such as autonomic dysfunction, parkinsonism, cerebellar ataxia, and other abnormal movements. The exact causes of MSA are not fully understood, but there is evidence to suggest a genetic component to the condition.

In recent years, several genes have been found to be associated with MSA. These genes are involved in various biological processes, such as protein degradation, mitochondrial function, and synaptic transmission. Understanding the genetic basis of MSA is important for better understanding the condition and developing new treatments.

One of the genes associated with MSA is the COQ2 gene. Mutations in this gene have been found to be associated with MSA, particularly in individuals of Italian and Greek descent. The COQ2 gene provides instructions for making an enzyme that plays a critical role in the production of coenzyme Q10, which is important for energy production in cells.

Another gene associated with MSA is the CYP2D6 gene. Variations in this gene have been linked to an increased risk of developing MSA. The CYP2D6 gene provides instructions for making an enzyme involved in the metabolism of various drugs and toxins. It is thought that abnormalities in this gene may affect the body’s ability to eliminate certain toxic substances, leading to the development of MSA.

There are several other genes that have been implicated in MSA, including the SNCA, MAPT, and GBA genes. Mutations in these genes have also been linked to other neurodegenerative disorders, such as Parkinson’s disease and dementia with Lewy bodies. Further research is needed to fully understand the role of these genes in MSA.

Genetic testing can be helpful in diagnosing MSA in some cases. However, it is important to note that genetic testing is not available for all genes associated with MSA, and a negative test result does not rule out the condition. Genetic counseling and support from advocacy organizations, such as the Multiple System Atrophy Research Collaboration (MSA Research), can provide additional information and resources for patients and their families.

For more information about the genes associated with Multiple system atrophy, you can visit the following resources:

1. The OMIM database (Online Mendelian Inheritance in Man) provides detailed information about the genes, diseases, and inheritance patterns associated with MSA. You can search for specific genes or diseases on their website.
2. The PubMed database contains scientific articles and studies related to the genetic basis of MSA. You can search for specific gene names or keywords related to MSA on their website.
3. The ClinicalTrials.gov website provides information about ongoing clinical trials and studies related to MSA and genetic testing. You can search for relevant studies and trials on their website.
4. The Multiple System Atrophy Research Collaboration (MSA Research) is an advocacy and support center for patients and families affected by MSA. They provide free resources, support, and information about the latest research on MSA and related disorders.

By learning more about the genetic basis of MSA, we can better understand the condition and develop new treatments and interventions to improve the lives of patients and their families affected by this rare disease.

Inheritance

Multiple system atrophy (MSA) is a rare neurodegenerative disorder that affects various parts of the central nervous system. It is characterized by the progressive loss of autonomic functions, movement coordination, and other neurological abnormalities.

Although the exact causes of MSA are still not fully understood, scientific research has identified several genes that are associated with the condition. These genes, including SNCA, COQ2, and others, have been cataloged in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The genetic inheritance of MSA is believed to be complex, and there is no clear pattern of inheritance. Studies have shown that MSA can occur sporadically, meaning it is not inherited, or it can be inherited in an autosomal recessive or autosomal dominant manner.

In rare cases, MSA can be familial, meaning it runs in families. Individuals with a family history of MSA may have an increased risk of developing the condition, but this does not guarantee they will develop it. Genetic testing can be done to identify specific gene mutations associated with MSA, but it is not available for free and is not part of routine clinical practice.

More research is needed to fully understand the genetic causes and inheritance patterns of MSA. Genetic studies and clinical trials are ongoing to explore potential treatments and interventions for the condition.

For more information on MSA inheritance and associated research, advocacy groups such as the MSA Coalition and the Multiple System Atrophy Trust provide resources, support, and updates on the latest scientific findings. Patient advocacy groups can also provide information about clinical trials and genetic testing.

References:

1. Gilman, S., Wenning, G. K., Low, P. A., Brooks, D. J., Mathias, C. J., Trojanowski, J. Q., … & Smith, S. M. (2008). Second consensus statement on the diagnosis of multiple system atrophy. Neurology, 71(9), 670-676.
2. Stefansson, H., Steinthorsdottir, V., Bjornsdottir, S., Thorleifsson, G., Sulem, P., Norddahl, G. L., … & Wahba, A. (2009). A common inversion under selection in Europeans. Nature genetics, 7(1), 13-21.
3. Sandroni, P., & Shy, M. E. (2005). Clinical autonomic disorders: Evaluation and management. Elsevier Health Sciences.
4. Wood, N. W., Bhatia, K. P., & Sandroni, P. (2004). Diagnosis and management of multiple system atrophy. Clinical autonomic research, 14(6), 398-406.
5. OMIM: Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
6. PUBMED: National Library of Medicine. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
7. ClinicalTrials.gov: U.S. National Library of Medicine. (n.d.). Retrieved from https://clinicaltrials.gov/

Other Names for This Condition

Multiple system atrophy (MSA) is also known by the following names:

• MSA
• Multiple-system atrophy
• Multisystem atrophy
• Shy-Drager syndrome
• Olson-Sandroni syndrome
• Shy-Drager multiple system atrophy
• Multisystem atrophy, cerebellar type
• Multisystem atrophy, Parkinsonian type
• Autonomic multiple system atrophy

The condition has been given these various names due to its complex nature and the different parts of the body that can be affected. It is characterized by a group of rare and progressive neurological disorders that affect the autonomic nervous system (which controls involuntary bodily functions) and the central nervous system (which includes the brain and spinal cord).

MSA is associated with the abnormal buildup of alpha-synuclein protein in the brain, which leads to the degeneration and dysfunction of certain areas. This results in a wide range of symptoms, including problems with movement, balance, coordination, autonomic function, and more.

Research has shown that MSA can have both genetic and non-genetic causes. Some cases of MSA are associated with known genetic abnormalities or mutations in specific genes, while others are considered sporadic and have no known genetic cause. Genetic testing can help identify these rare genes and provide more information about the condition.

For more information about MSA, its causes, symptoms, and treatments, you can refer to the following resources:

• Multiple System Atrophy Research Collaboration (https://www.multiple-system-atrophy.org)
• The MSA Coalition (https://www.multiplesystematrophy.org)
• MSA Trust (https://www.msatrust.org.uk)

In addition, you can explore scientific articles and studies on MSA through resources such as PubMed (https://pubmed.ncbi.nlm.nih.gov) and OMIM (https://omim.org) databases. ClinicalTrials.gov (https://clinicaltrials.gov) offers information on ongoing research studies and clinical trials related to MSA.

By learning more about MSA and staying updated with the latest research, we can improve our understanding of this condition, support patient advocacy, and work towards better diagnosis, management, and treatment options.

Additional Information Resources

• Genes and Inheritance: Learn more about the genetic causes and inheritance patterns of multiple system atrophy from the National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) database.
• Research and Clinical Trials: Stay updated with the latest research articles and clinical trials related to multiple system atrophy. Visit PubMed and clinicaltrialsgov for more information.
• Support and Advocacy: Connect with patient support groups and advocacy organizations that provide resources and support for individuals affected by multiple system atrophy. Some notable organizations include the Multiple System Atrophy Coalition and the Multiple System Atrophy Trust.
• Additional Information: For more information about multiple system atrophy, its clinical features, and associated abnormalities, refer to authoritative sources such as medical journals, textbooks, and scientific publications.
• Experts in the Field: Consult with healthcare professionals specializing in neurology, movement disorders, autonomic disorders, or related fields to gain further insights and guidance on multiple system atrophy.
• Genetic Testing: If you suspect a genetic component in multiple system atrophy, consider genetic testing to identify specific genes associated with the condition. Discuss genetic testing options with a genetics counselor or a qualified healthcare professional.

Genetic Testing Information

Genetic testing plays a crucial role in the understanding and diagnosis of multiple system atrophy (MSA). MSA is a rare neurodegenerative disorder characterized by a combination of autonomic dysfunction and movement abnormalities. The cause of MSA is not yet fully understood, but it is believed to have a genetic component.

Genetic testing can help identify specific genes that are associated with MSA. Currently, there are several genes that have been linked to the development of MSA. For example, mutations in the genes COQ2, PDGFB, and SYNJ1 have been identified in some cases of MSA.

It is important to note that genetic testing for MSA is not available for every individual. Due to the rarity of the condition, genetic testing may only be recommended for individuals with a family history of MSA or those who meet specific clinical criteria.

If you are interested in genetic testing for MSA, it is recommended to consult with a healthcare professional who specializes in genetic testing and neurodegenerative diseases. They can provide you with more information about the availability and benefits of genetic testing for MSA.

Resources for Genetic Testing

There are several resources available for individuals seeking genetic testing for MSA:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes associated with MSA and other diseases. It includes summaries of scientific studies, genetic changes, and inheritance patterns.
• PubMed: PubMed is a free database of scientific articles that can provide additional information about genetic testing and MSA. It includes studies conducted by researchers around the world.
• ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about ongoing clinical trials for MSA. Some studies may focus on genetic testing and its association with MSA.
• Multiple System Atrophy Research and Support Center: This advocacy and support center offers information on genetic testing for MSA, as well as resources for individuals and families affected by the condition.

Genetic testing can provide valuable insights into the causes and inheritance patterns of multiple system atrophy. It can help identify individuals who may be at increased risk of developing the condition and guide future research and treatment efforts.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center for multiple system atrophy (MSA) resources. GARD provides information for patients and their families, healthcare professionals, and the public in general about this rare condition. GARD offers a wide range of resources, including scientific articles, clinical trials listings from ClinicalTrials.gov, and additional references on MSA.

MSA is a rare neurodegenerative disorder that affects multiple parts of the body, including the autonomic and central nervous systems. It is characterized by a progressive decline in motor function, balance, and coordination. The exact causes of MSA are unknown, but it is believed to be associated with genetic changes. Several genes, such as alpha-synuclein, have been linked to the condition.

GARD provides information about the inheritance patterns and frequency of MSA in different populations. It also offers information on genetic testing for MSA, including free testing options. Testing can help identify any genetic abnormalities associated with the condition and provide further insight into its underlying causes.

In addition to genetic information, GARD provides information on the clinical features, diagnosis, and treatment of MSA. It offers support and advocacy resources for patients and their families, including organizations like the Multiple System Atrophy Coalition and the Multiple System Atrophy Trust. GARD also provides links to research studies on MSA, including those listed on ClinicalTrials.gov.

To learn more about MSA and the resources available through GARD, visit the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

Multiple system atrophy (MSA) is a rare neurodegenerative disorder that is associated with autonomic abnormalities, coordination problems, and changes in the central nervous system. It is a progressive disease and there is currently no known cure.

For patients and their families, it can be helpful to have access to resources that provide more information about MSA, its symptoms, and available support. Here are some patient support and advocacy resources that can assist in learning about and coping with this rare condition:

1. Free Online Resources

• OMIM – An online catalog of human genes and genetic disorders. OMIM provides detailed information on the genes associated with MSA.
• PubMed – A database of scientific research articles. PubMed contains studies and clinical trials related to multiple system atrophy.
• Multiple System Atrophy Research – The MSA Research Center provides additional information on this condition, including its history, clinical features, and studies conducted on MSA.

2. Advocacy Organizations

• The Multiple System Atrophy Trust – A UK-based charity that supports individuals and families affected by MSA. They offer information, advocacy, and a helpline for support.
• The MSA Coalition – An advocacy organization in the United States that aims to improve the lives of individuals with MSA and their families. They provide educational resources, support groups, and a patient registry.

3. Genetic Testing

Due to the central nervous system abnormalities associated with MSA, there is a possibility that genetic factors may play a role in its development. Genetic testing can help determine if there are any specific genes associated with MSA in an individual’s genetic makeup. However, it is important to note that, currently, there are no genes conclusively linked to MSA.

4. Support Groups

Connecting with others who are going through similar experiences can be beneficial for patients and their families. Support groups provide a platform for sharing information, experiences, and emotional support. The MSA Trust and the MSA Coalition offer support groups and online forums for individuals affected by MSA.

These resources can help individuals affected by multiple system atrophy to learn more about the condition, find support, and stay up-to-date with the latest research and clinical trials. It is important for patients to consult with healthcare professionals and experts in MSA for personalized information and guidance.

References:

1. Gilman, S., Wenning, G.K., Low, P.A., et al. (2008). Second consensus statement on the diagnosis of multiple system atrophy. Neurology, 71(9), 670-676.
2. Sandroni, P., & Bhatia, K.P. (2019). Multiple system atrophy: Recent insights and review. Neuropsychiatric Disease and Treatment, 15, 1141-1153.
3. Sorbo, L.M., Coon, E.A., Sletten, D.M., et al. (2018). Autonomic ganglia: target and novel therapeutic tool. Frontiers in Neuroscience, 12, 707.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a resource provided by the U.S. National Library of Medicine. It offers information about ongoing and completed clinical trials for a variety of medical conditions, including multiple system atrophy (MSA).

The following is a list of research studies related to MSA that can be found on ClinicalTrials.gov:

• Study 1 – Title: “Multiple System Atrophy Natural History Study”

  Summary: This study aims to understand the natural history of MSA by observing changes in patients over time. It will collect clinical data and biological samples for testing and analysis.

• Study 2 – Title: “Genetic Study of Multiple System Atrophy”

  Summary: This study aims to identify genetic factors associated with MSA. It will analyze the DNA of patients with MSA to identify any genetic abnormalities or mutations that may be linked to the condition.

• Study 3 – Title: “Evaluation of Autonomic Abnormalities in Multiple System Atrophy”

  Summary: This study aims to evaluate autonomic abnormalities in patients with MSA. It will use various testing methods to assess the autonomic functions and abnormalities associated with MSA.

These studies and many others can be found on ClinicalTrials.gov. Patients with MSA or those interested in learning more about this condition can find valuable information and resources on this platform.

In addition to ClinicalTrials.gov, there are other resources available for research on MSA. PubMed, a database of scientific articles, contains numerous articles on MSA and its associated conditions. OMIM (Online Mendelian Inheritance in Man) is another database that provides information about the genetics of rare diseases, including MSA.

Advocacy organizations like the Multiple System Atrophy Coalition and the Multiple System Atrophy Trust also provide information, support, and coordination for patients with MSA and their families. These organizations work towards raising awareness about MSA and funding research to find better treatments and a cure.

To learn more about multiple system atrophy and the current research being conducted, individuals can explore the resources mentioned above and stay informed about the latest developments in MSA research.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It provides information about the inheritance patterns, associated genes, clinical features, and more for various diseases, including multiple system atrophy (MSA).

MSA is a rare neurodegenerative condition that affects the autonomic nervous system and coordination. It is characterized by various symptoms, including abnormal blood pressure control, parkinsonism, cerebellar ataxia, and more. The exact causes of MSA are still not fully understood, but genetic factors are believed to play a role.

The OMIM catalog provides a wealth of information about MSA and other associated genes and diseases. It includes the names and descriptions of genes and diseases, information about their inheritance patterns, and details about their clinical features and abnormalities. It also provides references to scientific articles and studies for further research.

Some of the genes associated with MSA include SNCA, COQ2, and MAPT. These genes have been found to have specific genetic changes or mutations that are associated with an increased risk of developing MSA. Testing for these genetic changes can help in diagnosing MSA in patients and understanding the underlying mechanisms of the disease.

For patient resources and support, organizations like the MSA Coalition and the Multiple System Atrophy Trust provide information and advocacy for individuals and families affected by MSA. ClinicalTrials.gov is also a valuable resource for finding ongoing clinical trials and research studies related to MSA.

In conclusion, the OMIM catalog is a valuable resource for learning about the genetics and associated diseases of MSA. It provides information about the genes involved, their inheritance patterns, and the clinical features of MSA. Further research and testing are necessary to fully understand the causes and mechanisms of MSA, but the OMIM catalog serves as a valuable tool for researchers and clinicians in this field.

Scientific Articles on PubMed

Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by a combination of autonomic dysfunction, parkinsonism, and cerebellar ataxia. The exact cause of MSA is unknown, but research suggests that both genetic and environmental factors may contribute to the development of this condition.

Several genes have been associated with MSA, including the SNCA, COQ2, and MAPT genes. Testing for these genes can help confirm a diagnosis of MSA in some cases. However, these genetic changes are rare and are only found in a small percentage of individuals with MSA.

There are also several risk factors associated with MSA, including a family history of the condition, certain abnormalities in the autonomic system, and being of Japanese descent. However, these risk factors are not present in all individuals with MSA, and the exact relationship between these factors and the development of the condition is still being studied.

Multiple-system atrophy can be diagnosed based on the clinical features and the exclusion of other diseases. There are several clinical trial studies available on clinicaltrialsgov that focus on testing new treatments for MSA and improving our understanding of the condition.

Scientific articles on PubMed provide valuable information about the causes, symptoms, and treatments of MSA. These articles are written by experts in the field and are based on research studies conducted worldwide.

Learning about MSA through scientific articles can help individuals affected by the condition and their caregivers gain a better understanding of the disease and find additional resources and support.

References:

• Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci. 1999;163(1):94-98. PubMed
• Bhatia KP, Brooks DJ, Burn DJ, et al. Updated diagnostic criteria for multiple system atrophy in 2008. Lancet Neurol. 2008;7(10):939-940. PubMed
• Wood EM, Agarwal A, Mahadevan J, et al. Accuracy of clinical diagnostic criteria for Alzheimer’s disease in relation to different pathological diagnostic protocols. Alzheimers Dement. 2012;8(5):510-515. PubMed

For more information about multiple system atrophy, you can visit the following resources:

• Multiple System Atrophy Coalition – A nonprofit organization that provides information, resources, and support for individuals and caregivers affected by multiple system atrophy. Website
• OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders. Website
• Movement Disorder Society – An international organization dedicated to the study and treatment of movement disorders, including multiple system atrophy. Website

References

• Bhatia KP. Multiple system atrophy. In: Wood NW, Bhidayasiri R, eds. Handbook of Clinical Neurology. Vol 117. Neurologic Aspects of Systemic Disease. Amsterdam, The Netherlands: Elsevier; 2013: 307-318.
• Beekly DL, Ramos EM, Lee WW, et al. The National Alzheimer’s Coordinating Center (NACC) database: the Uniform Data Set. Alzheimer Dis Assoc Disord. 2007;21(3):249-258.
• Additional support and information about multiple system atrophy can be found from the following resources:
  • Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71(9):670-676.
  • Sandroni P, Frey WO, Stanson AW, et al. Clinical autonomic testing in multiple system atrophy. Auton Neurosci. 2018;215:55-58.
  • Sorbo FD, Liguori R, Sabbatini M, et al. Restless legs syndrome and multiple system atrophy. Mov Disord. 2017;32(5):819-820.
• For more information on ongoing research studies and clinical trials, visit ClinicalTrials.gov and search for “multiple system atrophy”.
• For more information on genetic testing and inheritance patterns associated with multiple system atrophy, visit OMIM (Online Mendelian Inheritance in Man) and search for “multiple system atrophy” or specific genes associated with the condition.