Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare and hereditary central nervous system disorder that primarily affects the white matter of the brain. This condition leads to the loss of myelin, the protective covering of nerve fibers, and the degeneration of axons, the long fibers that transmit signals between nerve cells. As a result, ALSP can cause a wide range of problems, including motor dysfunction, cognitive impairment, and psychiatric symptoms.

The exact causes of ALSP are not yet fully understood, but research has identified specific genes associated with the condition. One of these genes is POLD1, which plays a role in DNA replication and repair. Mutations in the POLD1 gene are thought to alter the function of glial cells, particularly oligodendrocytes, which are responsible for producing myelin. This leads to the formation of axonal spheroids and the accumulation of pigmentary deposits in the brain, hallmarks of ALSP.

ALSP is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children. However, not all individuals with a pathogenic POLD1 mutation will develop ALSP, suggesting that other genetic or environmental factors may also play a role in the development of the disease.

Diagnosing ALSP can be challenging due to its rarity and the overlapping symptoms with other neurological diseases. Genetic testing for POLD1 mutations can confirm the diagnosis in individuals suspected to have ALSP. Additionally, advanced imaging techniques such as magnetic resonance imaging (MRI) can reveal characteristic brain abnormalities, further supporting the diagnosis.

Currently, there is no cure for ALSP, and treatment options are limited to managing the symptoms and providing support for affected individuals. However, scientific research and clinical trials are underway to better understand the disease and develop targeted therapies. Resources such as clinicaltrialsgov and PubMed provide further information on ongoing research studies and articles related to ALSP.

Patients and their families also have access to advocacy groups and support organizations that offer resources and information about ALSP. These resources can help patients learn more about the condition, find support networks, and connect with others affected by ALSP.

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In conclusion, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare genetic disease that causes damage to the white matter of the brain. It is characterized by the loss of myelin and degeneration of axons, leading to various neurological symptoms. While the exact causes of ALSP are still being researched, advances in genetic testing and scientific studies are providing more information about the disease and potential treatment options. With continued research and support, there is hope for improved understanding and management of ALSP.

Frequency

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare genetic disease that is associated with altered white matter in the central nervous system. It causes damage to the myelin, which is the protective covering of nerve fibers (axons). ALSP is also known as pigmentary leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

The frequency of ALSP is not well established due to its rarity. It is thought to be a rare condition, although the exact number of affected individuals is currently unknown. The disease has been reported in different populations and ethnic groups worldwide.

Studies and research on ALSP are still ongoing to learn more about the genes associated with this condition, the inheritance pattern, and the causes of the disease. Additional information about ALSP can be found from various scientific resources, such as PubMed, OMIM, and the Center for Information and Study on Clinical Trials (ClinicalTrials.gov).

Genetic testing is available for ALSP, which can help in diagnosing the condition in affected individuals and their families. This testing can also provide information about the wider frequency of the disease in the population. Testing for ALSP genes is usually done in specialized genetic testing centers.

The ALSP Support and Advocacy (ALSAP) is an organization that provides support and resources for patients and families affected by ALSP. They aim to raise awareness about the condition, stimulate research and clinical trials, and develop treatments for ALSP. They provide information about ongoing clinical trials on their website (clinicaltrialsgov) for individuals who are interested in participating.

In summary, the frequency of ALSP is relatively rare, and further research is needed to understand more about the genes and mechanisms associated with the disease. Genetic testing and support organizations like ALSAP play a crucial role in providing information, support, and resources for individuals affected by ALSP and their families.

Causes

The main cause of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a genetic mutation. However, the exact disease-causing genes and inheritance pattern are not yet fully understood.

ALSP is thought to be caused by alterations in genes that affect the function and support of glial cells in the central nervous system. These glial cells, called pigmented glia, are responsible for the maintenance and protection of the axons in the brain and spinal cord.

Multiple genes have been associated with ALSP, and more research is underway to learn about their specific roles and how they contribute to the development of the disease. Some of the known genes associated with ALSP include:

• CSF1R
• TREX1
• ITPA
• SNCAIP

The frequency of ALSP is currently unknown, but it is considered to be a rare condition. Due to its rarity and the limited number of affected individuals, finding additional genes associated with ALSP is challenging.

Families affected by ALSP can benefit from genetic counseling and testing to better understand the inheritance pattern of the condition and to make informed decisions about family planning.

For additional information on ALSP, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders.
• HDLs (Hereditary Disease Foundation): an organization supporting research and advocacy for Huntington’s disease and related conditions
• Research articles and scientific studies: numerous publications are available to learn more about ALSP and its causes.
• ClinicalTrials.gov: a database of ongoing clinical trials that may be exploring potential treatments or interventions for ALSP.

Further research and scientific studies are needed to uncover more in-depth information about the causes of ALSP and to develop effective treatments for the condition.

Learn more about the gene associated with Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

The gene associated with Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is called CSF1R. It has been found that mutations in this gene can cause damage to the white matter in the brain, leading to the development of this rare disease.

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, also known as ALSP or POLD, is a hereditary condition that affects the central nervous system. It is characterized by the loss of myelin, the protective covering of nerve fibers (axons), and the presence of abnormal structures called axonal spheroids and pigmented glia.

Research studies have identified CSF1R as the gene responsible for this disease. Mutations in CSF1R can lead to problems in the production and function of myelin, causing damage to the axons and resulting in the clinical features of ALSP.

To learn more about the gene CSF1R and its role in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, the following resources can be useful:

• OMIM (Online Mendelian Inheritance in Man) database: Provides scientific information about genes, genetic diseases, and their inheritance patterns. The entry for CSF1R in OMIM contains references to research articles and additional resources to explore.
• Patient support groups and advocacy organizations: These organizations provide resources and support for individuals and families affected by ALSP. They can provide information about the latest research, clinical trials, and opportunities to connect with other patients and caregivers.
• ClinicalTrials.gov: This online database lists ongoing and completed clinical trials related to adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. It can provide information about new treatment options and opportunities to participate in research studies.

By learning more about the gene CSF1R and the associated disease, we can hope to develop a wider understanding of ALSP and stimulate further scientific research to improve diagnosis, treatment, and support for affected individuals.

Inheritance

The inheritance of Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is not fully understood. Research suggests that ALSP has an autosomal dominant inheritance pattern. This means that a person with a mutation in the responsible gene has a 50% chance of passing the mutation on to each of their children. ALSP is associated with mutations in the CSF1R gene. However, there may be additional genes or factors yet to be identified that can cause or contribute to the development of this condition.

ALSP is a rare disorder, and it is thought to be caused by a loss of function of the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF1R), which is involved in the function of certain immune cells and the development of the central nervous system. Mutations in the CSF1R gene lead to altered CSF1R protein function, which can result in the formation of axonal spheroids and the accumulation of pigmentary material in the white matter of the brain.

Information about the genetics of ALSP and related disorders can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which is a comprehensive resource that provides information about genetic diseases and associated genes. Genetic testing is available for ALSP and can help confirm a diagnosis in cases where the clinical features of the condition are not conclusive. In addition, testing may identify other mutations in genes that are associated with similar motor problems and white matter changes, such as hereditary diffuse leukoencephalopathy with spheroids (HDLS).

For more information about ALSP, its causes, and inheritance patterns, it is recommended to consult with a healthcare professional, such as a neurologist or genetic counselor. These experts can provide additional resources and support for patients and their families. Scientific studies and references can also be found in PubMed and clinicaltrialsgov, which are valuable sources for up-to-date information on research and clinical trials related to ALSP and related conditions.

Other Names for This Condition

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glial cells (ALSP) is also known by several other names:

• Alzheimer disease, central pigmentary
• Adult-onset leukodystrophy with axonal spheroids and pigmented glia
• Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS)
• Leukoencephalopathy, diffuse hereditary, with spheroids
• Leukodystrophy, diffuse amyloidosis with axonal spheroids and pigmented glia
• Neuroaxonal dystrophy, hereditary, with neurofibrillary tangles and spheroids

These alternative names are commonly used to refer to the condition and may be of wider recognition in scientific studies, research, and clinical trials.

In addition, ALSP is sometimes thought to be associated with the following conditions:

• Adult-onset tauopathies
• POLD1-related leukoencephalopathy

However, it is important to note that these associations are still under scientific investigation and further research is needed to understand the relation between ALSP and these diseases.

For more information about ALSP, its causes, clinical trials, genetic inheritance, and patient support resources, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): This catalog provides detailed information about ALSP, its associated genes, and inheritance patterns.
• PubMed Articles: A comprehensive list of scientific articles related to ALSP published in medical journals. These articles can provide a deeper insight into the condition, its symptoms, and potential treatment approaches.
• ClinicalTrials.gov: This resource provides information about ongoing clinical trials and research studies related to ALSP. It can help you explore potential treatment options or participate in research to contribute to a better understanding of the disease.

Additional Information Resources

If you want to learn more about Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), here are some additional resources that can provide you with further research and support:

• PubMed: You can find scientific articles and studies on ALSP by searching for keywords such as “Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia” or “ALSP” on the PubMed website.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genetic causes, inheritance patterns, and clinical features of ALSP.
• Genetic Testing: Genetic testing can help diagnose ALSP and identify specific gene mutations associated with the condition. Consult a genetic counselor or medical professional for more information on testing options.
• ClinicalTrials.gov: This resource provides information on ongoing clinical trials and studies related to ALSP. It can help you find opportunities for participation and learn about new treatments being developed.
• Advocacy and Support: Joining advocacy groups and support communities can provide valuable emotional and practical support for individuals and families affected by ALSP. Look for organizations that focus on leukoencephalopathy or other similar diseases.
• References and Articles: Consulting scientific articles and references can further expand your knowledge and understanding of ALSP. Look for scholarly articles published in medical journals that discuss the disease’s clinical presentation, molecular mechanisms, and treatment options.

By utilizing these resources, you can gain a better understanding of Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia and stay updated on the latest research and developments in this rare condition.

Genetic Testing Information

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare condition that affects the central nervous system, specifically the white matter of the brain. It is associated with alterations in several genes, including CSF1R, DCTN1, and PLA2G6. Genetic testing can provide valuable information about the presence of these gene mutations and can help in diagnosing the condition.

Genetic testing for ALSP can be done through various methods, such as sequencing of specific genes or whole exome sequencing. The results of these tests can provide important insights into the inheritance pattern, frequency, and associated problems with ALSP.

Furthermore, genetic testing can also help in identifying individuals who are at risk of developing ALSP. This information can be useful in clinical trials and research studies aimed at exploring potential treatments and stimulating disease-modifying therapies.

Several resources are available for individuals interested in genetic testing for ALSP. Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed offer scientific articles and references that provide additional information about the disease and its genetic basis. ClinicalTrials.gov can provide information about ongoing clinical trials and research studies related to ALSP.

In addition to genetic testing, other diagnostic tools, such as brain imaging and histopathological analysis, can also support the diagnosis of ALSP. These tests can help in identifying characteristic features of the disease, such as axonal spheroids, pigmentary changes in glial cells, and loss of myelin.

It is important for individuals affected by ALSP and their families to seek genetic counseling and support from advocacy organizations or genetic professionals. These resources can provide further guidance and information about the disease, its inheritance patterns, and available treatment options.

Genes associated with Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia:

Gene	Function
CSF1R	Stimulating the development and function of microglia
DCTN1	Altered motor function in axons
PLA2G6	Loss of myelin and pigmentary changes in glia

Overall, genetic testing is an important tool in the diagnosis and understanding of ALSP. It provides valuable information about the genetic basis of the disease, helps in identifying at-risk individuals, and supports research efforts to develop effective treatments.

Genetic and Rare Diseases Information Center

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP):

The Genetic and Rare Diseases Information Center (GARD) provides reliable information on adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare genetic disease that affects the central nervous system.

What is ALSP?

ALSP, also known as POLD or RAD, is a rare genetic condition that affects the white matter and myelin in the brain. It is thought to be caused by mutations in certain genes that are involved in the function of axons and glial cells. ALSP can lead to the development of motor, cognitive, and behavioral problems in affected individuals.

What are the symptoms of ALSP?

ALSP is characterized by a wide range of symptoms, including altered motor function, cognitive decline, and behavioral changes. Individuals with ALSP may develop difficulty with movement, muscle weakness, problems with coordination, and changes in behavior and personality. The severity and progression of symptoms can vary from person to person.

How is ALSP diagnosed?

The diagnosis of ALSP is typically based on clinical features, brain imaging studies, and genetic testing. A brain MRI may reveal white matter abnormalities, axonal spheroids, and pigmented glia. Genetic testing can detect mutations in genes associated with ALSP, such as CSF1R and TREM2. The diagnosis should be confirmed by a medical professional.

Is there a treatment for ALSP?

Currently, there is no cure for ALSP and treatment is mainly supportive. The goal is to manage the symptoms and provide care to improve the quality of life for individuals with ALSP. Physical therapy, occupational therapy, and speech therapy may be recommended to address motor and functional impairments. Additional support and resources may be available through advocacy groups and patient organizations.

Where can I find more information?

The GARD provides comprehensive information on ALSP, including resources for patients and families seeking support and additional information. You can find articles, references, and other resources on ALSP on the GARD website. PubMed and OMIM are also useful resources for scientific articles and genetic information related to ALSP. ClinicalTrials.gov may have information on ongoing clinical trials and research studies related to the disease.

Patient Support and Advocacy Resources

Patients and families affected by Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) can find valuable support and resources through various organizations and websites. These resources provide information, community support, and advocacy for patients and their loved ones.

• ALSP Websites: The ALSP websites offer comprehensive information about the condition, its causes, associated symptoms, and inheritance patterns. These websites also provide updates on ongoing research studies and clinical trials. Patients and families can learn about the latest scientific advancements and treatment options. Some recommended websites include:
• PubMed: A database of scientific articles and studies related to ALSP. It provides information on the genetic background and function of the genes associated with the condition, axonal damage, and altered myelin.
• Gene: A comprehensive catalog of genes, genetic testing information, and additional resources for learning about ALSP.
• OMIM: A resource for learning about the genetic causes and clinical features of ALSP.
• Patient Support Groups: Joining a support group can provide a sense of community and connection with others who are facing similar challenges. These groups offer emotional support, information sharing, and resource recommendations. Some organizations that offer support for ALSP patients and families include:
• ALSP Center: A center dedicated to research, patient support, and advocacy for ALSP.
• ClinicalTrials.gov: A database of ongoing clinical trials and research studies related to ALSP. Patients can find information about participating in studies and access additional resources.
• Genetic Counseling: Genetic counseling can provide patients and families with information about the inheritance patterns, frequency, and risks of ALSP. Genetic counselors can explain the testing options available, discuss the results, and help individuals make informed decisions about family planning and treatment options.
• Research and Scientific Resources: Keeping up to date with the latest research and scientific advancements can help patients and families better understand ALSP and its management. Research articles and publications can be found through resources like PubMed and online scientific journals.

By utilizing these resources and support networks, patients and families affected by ALSP can gain a better understanding of the condition, access valuable information, and connect with others who share similar experiences. Remember, you are not alone, and there are resources available to support you through your journey.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and its associated gene mutations. ALSP is a rare genetic disorder that affects the white matter of the brain, causing damage to the myelin sheath and leading to motor and cognitive problems.

Studies have identified several genes associated with ALSP, including the POLD gene and HDLS genes. Additionally, a gene called Wszolek has been found to be altered in patients with ALSP. These genetic changes are thought to cause the loss of myelin and axonal damage seen in the disease.

Research studies on ALSP are focused on understanding the inheritance patterns, frequency, and clinical features of the disease. Scientists are also investigating the function of the genes associated with ALSP and how their alteration leads to myelin and axonal damage. These studies aim to uncover potential therapeutic targets for the treatment of ALSP.

ClinicalTrialsgov provides information about ongoing research studies and clinical trials related to ALSP. These studies may involve testing new therapies, evaluating disease progression, and stimulating advocacy and support for patients and families affected by ALSP. The database can be a valuable resource for patients, healthcare providers, and researchers looking to learn more about the disease and find additional resources.

The catalog of articles on PubMed also contains scientific articles about ALSP and related diseases. These articles provide in-depth information about the genetic and molecular mechanisms underlying ALSP and potential treatment approaches.

In summary, research studies from ClinicalTrialsgov and other scientific resources contribute to our understanding of the causes, clinical features, and treatment of ALSP. Through these studies, researchers and medical professionals hope to improve patient care and find effective therapies for this rare condition.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and patients to better understand and navigate the complex landscape of genetic diseases. This catalog provides a wealth of information about various diseases, including Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

ALSP is a rare genetic condition characterized by damage to the white matter of the brain. It is thought to be caused by mutations in the POLD gene, which alters the function of glial cells and leads to the formation of axonal spheroids and pigmented glia. The exact mechanisms of how these mutations lead to disease are not yet fully understood.

Patients with ALSP often develop motor and cognitive problems, including difficulties with movement, muscle weakness, and cognitive decline. The disease can have a profound impact on the quality of life for affected individuals. Currently, there are no specific treatments available for ALSP, but researchers are actively studying the condition to learn more about its underlying causes and develop potential therapies.

To support research and testing for ALSP and other related diseases, clinicaltrialsgov provides a database of ongoing clinical trials. This resource can help connect patients and researchers to potential opportunities for participation in studies aimed at finding new treatments and understanding the disease better.

For more information about ALSP and related diseases, there are additional resources available such as scientific articles accessible through PubMed, as well as references from the OMIM catalog. Central research centers and advocacy organizations can also provide support and additional information for patients and their families.

Key Features:

• Damage to the white matter of the brain
• Mutations in the POLD gene
• Formation of axonal spheroids and pigmented glia
• Motor and cognitive problems
• No specific treatments currently available
• Ongoing clinical trials for testing potential therapies
• Resources such as PubMed articles and references from OMIM
• Support and information from research centers and advocacy organizations

Scientific Articles on PubMed

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare inheritable disease characterized by the damage to myelin in the central white matter of the brain. This disease is also known as pigmentary orthochromatic leukodystrophy (POLD). ALSP affects the axons and glial cells and is associated with the formation of spheroids in the affected areas.

Research on ALSP is still ongoing, and scientific articles published on PubMed provide valuable resources for learning more about this disease. The altered genes that cause ALSP have been cataloged, and genetic testing is available for patients. These studies aim to stimulate additional research and support the development of wider resources for ALSP.

One of the major problems associated with ALSP is the hereditary nature of the disease. It can be passed down from one generation to another, causing motor and cognitive problems in affected individuals. However, more research is needed to understand the exact causes and mechanisms of ALSP.

References:

• Rademakers R, et al. (2012) Genet Med. PMID: 22790497.
• OMIM Entry – #221820 – Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. Available from: https://www.omim.org/entry/221820.
• ClinicalTrials.gov. Available from: https://clinicaltrials.gov/.

References

• Rademakers R, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical, neuroimaging and neuropathologic features. Brain Pathol. 2008 Jan;18(1):55-64. PMID: 18093245
• Wszolek ZK, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Unique central nervous system imaging and neuropathologic features. Neurology. 2006 Apr 25;66(8): 964-966. PMID: 16636247
• Baba Y, et al. The sensory and autonomic neuropathy and pigmented retinopathy syndrome (SANS-PRES): A novel polyneuropathy. Lancet Neurol. 2005 Feb;4(2): 98-101. PMID: 15664541
• Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org/entry/221820
• Baker M, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006 Aug 24;442(7105): 916-919. PMID: 16862116
• Pottier C, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal dementia without motor neuron disease. Acta Neuropathol. 2015 May;130(1): 77-92. PMID: 25733527