Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as PLOSL or Nasu-Hakola disease, is a rare genetic condition that affects the bones and the brain. It is typically characterized by the formation of cyst-like structures in the bones, leading to bone loss and skeletal abnormalities. In addition, patients with PLOSL experience progressive loss of nervous tissue in the brain, resulting in neurological symptoms.

PLOSL is an extremely rare disease, with only a few hundred affected individuals reported worldwide. It was first described in the 1970s by researchers in Seattle, and the condition is named after the Japanese and Finnish researchers who made significant contributions to its understanding. PLOSL is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected by the condition.

Research on PLOSL is limited due to its rarity, but ongoing studies aim to learn more about the causes and clinical manifestations of the disease. Genetic testing is available to confirm a diagnosis of PLOSL and to identify the specific gene mutations associated with the condition. There are currently no specific treatments for PLOSL, but management of symptoms and supportive care can help improve the quality of life for affected individuals.

For more information about PLOSL, research studies, clinical trials, and advocacy resources, interested individuals can visit the websites of scientific and advocacy organizations. Additional information about the condition and related genes can be found in scientific articles and databases such as OMIM and PubMed. Citation references for the information used in this article can be found at the end of the publication.

Frequency

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease, is a rare genetic condition. It is estimated to affect less than 1 in 1,000,000 individuals in the population.

The condition is caused by mutations in the TREM2 and DAP12 genes, which are involved in the regulation of bone and brain tissue. These mutations result in the formation of cyst-like structures in the bones and a loss of function in the brain.

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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy typically presents in the thirties, with symptoms such as cognitive decline, bone fractures, and loss of motor function. The disease is associated with progressive neurodegeneration and can be fatal.

There is currently no cure for PLOSL, and treatment primarily focuses on managing symptoms and providing support to affected individuals. Genetic testing can be done to confirm a diagnosis, and further research is ongoing to better understand the disease and develop potential therapies.

For more information about this condition, support groups, and research studies, you can refer to the following resources:

• The PLOSL Center at the University of Washington in Seattle: https://medicine.uw.edu/plosl
• The PLOSL information page on OMIM (Online Mendelian Inheritance in Man): https://omim.org/entry/221770
• The ClinicalTrials.gov database for ongoing studies: https://clinicaltrials.gov
• The Rare Diseases catalog for additional information: https://rarediseases.org

References:

1. Hakola HP (1972). “Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL)”. Arch Psychiatr Nervenkr 217(1):105–14.
2. Nasu T, et al. (1969). “A lipid metabolic disease—membranous lipodystrophy—characterized by leukodystrophy with cystic degeneration of mesenchymal and parenchymatous organs”. Acta Med Orient 26(5):477–80.

Scientific articles and research papers can be found on PubMed:

For patient advocacy and support, you can reach out to the following organizations:

• The PLOSL Center at the University of Washington in Seattle: https://medicine.uw.edu/plosl
• The National Organization for Rare Disorders (NORD): https://rarediseases.org

This article provides a brief overview of the frequency of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and resources for further information and support.

Causes

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease, is a rare genetic condition that affects the brain and bones.

The main cause of PLOSL is a mutation in the TREM2 or TYROBP genes, which are responsible for the formation of a protein complex involved in the immune response and the maintenance of bone health. These mutations disrupt the normal function of the protein complex and lead to the characteristic features of the disease.

PLOSL is inherited in an autosomal recessive manner, which means that an affected person must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. People who inherit only one copy of the mutated gene are carriers and do not typically show symptoms.

The disease is most commonly found in the Finnish population, where it is estimated to affect about 1 in 42,000 individuals. However, cases of PLOSL have also been reported in other populations around the world.

Patients with PLOSL typically start experiencing symptoms in their thirties, although the age of onset can vary. The most common symptoms of the disease include progressive loss of cognitive function, deterioration of motor skills, and changes in behavior and personality.

The exact mechanisms by which the mutations in TREM2 or TYROBP lead to the development of PLOSL are not fully understood. However, it is believed that these mutations disrupt the normal function of microglial cells in the brain, leading to inflammation and damage to the white matter tissue (leukoencephalopathy). Additionally, abnormalities in bone remodeling have been observed in affected individuals, leading to the characteristic bone changes seen in PLOSL.

Diagnosis of PLOSL can be confirmed through genetic testing, which looks for mutations in the TREM2 or TYROBP genes. Additional testing, such as brain imaging and neurological examination, may be used to support the diagnosis and assess the severity of the disease.

Currently, there is no cure for PLOSL. Treatment focuses on managing symptoms and providing support to affected individuals and their families. Physical and occupational therapy may help maintain motor skills and independence. Cognitive and behavioral therapies can also be beneficial in managing the neurological symptoms of the disease.

Research on PLOSL is ongoing, with clinical trials and scientific studies aimed at understanding the underlying mechanisms of the disease and developing potential treatments. Patients and their families can find additional information and support from advocacy organizations, such as the Nasu-Hakola Disease Foundation in Seattle.

Learn more about the genes associated with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease, is a rare genetic disorder characterized by cyst-like formations in the bones and loss of white matter in the brain. This disease typically affects persons in their thirties and forties.

There are two genes associated with this disease, TYROBP and TREM2. Mutations in these genes are known to cause Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Testing for these genetic causes of the disease can be done through clinicaltrialsgov or other genetic testing resources.

References:

• Hakola HP, et al. Nasu-Hakola disease: a rare inherited condition characterized by bone cysts and dementia. Dement Geriatr Cogn Disord. 2002;14(3):161-5. PubMed PMID: 12381965.
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/entry/221770
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Orphanet
• Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Disease Advocacy Organizations. Retrieved from https://rarediseases.org/rare-diseases/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy/

Inheritance

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a rare genetic condition. It is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for a child to be affected.

Persons with PLOSL have mutations in their genes that cause abnormalities in the bone tissue, leading to the formation of cyst-like structures. These cysts can occur in various parts of the body, including the brain. The accumulation of cysts in the brain can result in the loss of brain tissue and is associated with neurological symptoms.

The inheritance of PLOSL can be traced back to specific genes, including the TREM2 and DAP12 genes. Mutations in these genes are known to be responsible for the development of the disease. Genetic testing can be done to identify these mutations in affected individuals.

The frequency of PLOSL in the general population is not well understood, but it is considered to be a rare condition. It has been reported in several cases and has been the subject of scientific studies and clinical trials.

Support and advocacy for persons affected by PLOSL and their families can be found through various resources, including patient support organizations, scientific articles, and research studies. Additional information about PLOSL can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

Some of the other names used to refer to PLOSL include Nasu-Hakola disease, Membranous lipodystrophy and osteodysplastic sclerosing leukoencephalopathy (MOLD), and Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL).

Other Names for This Condition

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is a rare condition that is also known by other names, including:

• Lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Lipomembranous osteodysplasia and leukoencephalopathy
• Lipomembranous osteodysplasia Hakola type

These alternative names may be used in scientific articles, research studies, genetic testing, and clinical trials to refer to the same condition. While the frequency of this condition in the general population is not well-known, it is considered to be extremely rare.

For individuals affected by polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, finding support and additional information can be challenging due to the rarity of the condition. However, resources such as the National Institutes of Health’s Genetic and Rare Diseases Information Center may provide some helpful information and support. Moreover, scientific articles and studies published on PubMed can provide further insights into the genetic causes, clinical manifestations, and management of the disease.

It is important for healthcare professionals and researchers to continue studying and researching this condition to learn more about its genetic inheritance patterns, associated symptoms, and appropriate treatment options. Collaboration among experts in different fields can help break new ground in understanding and managing this rare disease.

Additional Information Resources

For more information about Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Hakola disease, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM) Catalog: OMIM provides detailed information about the disease, including its clinical features, genetic inheritance, associated genes, and other related disorders. You can access the OMIM catalog at https://omim.org/.

• Seattle Polycystic Lipomembranous Osteodysplasia Research Center: This research center is dedicated to studying Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. You can learn more about their ongoing studies, scientific articles, and patient support resources by visiting their website at https://www.seattlepolycysticcenter.org/.

• PubMed: PubMed is a database that contains a vast collection of scientific research articles. You can search for articles and studies related to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy on PubMed’s website at https://pubmed.ncbi.nlm.nih.gov/.

• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies and trials conducted worldwide. You can find information about ongoing and completed studies related to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy by visiting their website at https://www.clinicaltrials.gov/.

• Genetic Testing: Genetic testing can help in diagnosing the disease and identifying the specific genes associated with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Additional information about genetic testing options and available laboratories can be obtained from your healthcare provider or genetic counselor.

• Support and Advocacy: There are various support groups and advocacy organizations that provide assistance and information for individuals and families affected by rare diseases like Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. These organizations can offer guidance and resources to help navigate the challenges associated with the disease. Some examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

• References: To explore additional references and scientific articles about Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, you can consult the cited publications in the OMIM catalog, PubMed search results, or scientific journals specialized in neurology and rare diseases.

Genetic Testing Information

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is a rare genetic condition that affects the bones and nervous tissue. Genetic testing can help individuals to learn more about the underlying causes of this condition and their own genetic makeup.

Scientific research has identified several genes associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Genetic testing can analyze these genes to determine if any mutations are present.

This testing is particularly useful for individuals with a family history of the condition, as it can provide information about the inheritance pattern and the frequency of the condition in the population. Genetic testing can also be performed on affected individuals to provide additional information for research studies and clinical trials.

There are several resources available for genetic testing and support. The National Institutes of Health’s Genetic Testing Registry provides a catalog of genetic tests and laboratories that offer testing for various diseases, including polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. In addition, the Online Mendelian Inheritance in Man (OMIM) database provides information on genes and genetic disorders.

References:

1. Hakola HP. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Orphanet J Rare Dis. 2006;1:37. Published 2006 Sep 12. doi:10.1186/1750-1172-1-37
2. Sener U, Zorlu Y, Karli-Oguz K, Yildirim T, Gumus H. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: a case report. Case Rep Neurol Med. 2015;2015:184387. Published 2015 Apr 30. doi:10.1155/2015/184387
3. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy. Published December 22, 2020. Accessed April 15, 2021.
4. Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy – Hakola Disease. Seattle Children’s Hospital. https://www.seattlechildrens.org/clinics/leukodystrophy-program/conditions/polycystic-lipomembranous-osteodysplasia-sclerosing-leukoencephalopathy-hakola-disease/. Accessed April 15, 2021.
5. Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy. Genetics of Bone Diseases and Their Related Disorders (GEnBone). https://www.ncbi.nlm.nih.gov/books/NBK458394/. Published April 15, 2021. Accessed April 15, 2021.

Genetic and Rare Diseases Information Center

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as PLOSL or Nasu-Hakola disease, is a rare genetic condition that affects the bones and nervous system.

This disease is characterized by the presence of cyst-like structures in bone tissue, leading to bone loss and fragile bones. In addition, individuals with PLOSL may also experience neurological symptoms such as cognitive decline, behavioral changes, and difficulties with movement.

The exact frequency of PLOSL is unknown, as it is a rare disease. It is estimated to affect only a small number of individuals worldwide.

PLOSL is caused by mutations in the TREM2 or TYROBP genes. These genes are involved in the function of immune cells in the brain and are thought to play a role in the regulation of inflammation and bone remodeling.

Diagnosis of PLOSL is typically based on clinical symptoms, as well as genetic testing to identify mutations in the TREM2 or TYROBP genes. Additional testing, such as imaging studies and biopsy of bone tissue, may be performed to confirm the diagnosis.

Currently, there is no cure for PLOSL. Treatment focuses on managing the symptoms and may include physical therapy, medication to manage pain and inflammation, and supportive care.

The Genetic and Rare Diseases Information Center (GARD), located in Seattle, provides scientific and clinical information about rare diseases, including PLOSL. GARD also offers resources for patients and their families, including information about support groups, clinical trials, and advocacy organizations.

For more information about PLOSL and other rare diseases, you can visit the GARD website, which includes references from scientific articles, the OMIM catalog, PubMed citations, and clinicaltrials.gov.

Patient Support and Advocacy Resources

If you or someone you know is affected by Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), it is important to have access to accurate and reliable information about the condition. There are several patient support and advocacy resources available that can provide valuable assistance and support.

• The Leukoencephalopathy Knowledge Catalog: This catalog provides a comprehensive collection of articles, studies, and references on leukoencephalopathy and other related diseases. It can be a valuable resource for learning more about the condition, its causes, inheritance patterns, and associated genes. You can access the catalog online to access the latest information and research.

• Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (often referred to as PLOSL or Nasu-Hakola disease) is a rare genetic disorder that typically manifests in the thirties. It is characterized by the formation of cyst-like structures in the bones and nervous tissue, leading to progressive loss of motor skills, cognitive decline, and other neurological symptoms. To learn more about PLOSL and associated genes, you can refer to scientific articles and research on PubMed or other reputable scientific databases.

• Testing and Diagnosis: If you suspect you may have PLOSL or are at risk due to a family history of the disease, it is important to consult with a medical professional. Genetic testing can help confirm the diagnosis and provide information about the inheritance pattern. Discuss testing options and available resources with your doctor or a genetic counselor to get the most accurate and up-to-date information.

• Seattle Patient Support Group: The Seattle Patient Support Group is an advocacy organization dedicated to providing support, information, and resources to individuals and families affected by PLOSL and other rare diseases. They offer a range of services, including support group meetings, educational materials, and referrals to specialists. You can contact the organization to learn more about their programs and how they can assist you.

• Additional Resources: In addition to the above-mentioned resources, there are several other patient support and advocacy organizations that focus on rare diseases and neurological conditions. These organizations provide valuable support, information, and resources to individuals and families affected by a wide range of genetic disorders. A quick internet search using relevant keywords can help you find these resources and connect with others who share similar experiences.

It is important to remember that the information provided here is not exhaustive, and there may be additional resources and support available specific to your location. Keeping yourself informed and connected to the PLOSL patient community can provide valuable support and help navigate the challenges associated with the condition.

Research Studies from ClinicalTrialsgov

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease, is a rare genetic condition characterized by the frequency of cyst-like lesions and loss of bone tissue in affected persons. The disease causes sclerosing leukoencephalopathy which leads to progressive behavioral and cognitive deficits in affected individuals.

Scientific research studies on PLOSL have been conducted to understand the genetic basis and causes of this condition. Several genes, including TREM2 and DAP12, have been identified as associated with PLOSL. These genes are involved in the regulation of bone remodeling and immune response in the body.

Research studies have utilized various methods to investigate the inheritance patterns and molecular mechanisms of PLOSL. Genetic testing and analysis of affected individuals and their families have provided valuable insights into the disease. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed resources have also supported this research by providing references to relevant scientific articles and information.

One research center in Seattle, Washington, has been conducting studies on PLOSL and other lipomembranous diseases. ClinicalTrialsgov, a comprehensive database of clinical research studies, lists several ongoing and completed trials related to PLOSL. These studies aim to evaluate potential treatments, understand disease progression, and identify biomarkers for early diagnosis.

Overall, research studies from ClinicalTrialsgov and other scientific resources have contributed to our understanding of PLOSL and its associated conditions. The findings from these studies have the potential to improve patient care and develop targeted therapies for this rare genetic disease.

Additional resources:

• ClinicalTrialsgov – a comprehensive database of clinical research studies
• OMIM catalog – provides information on genetic disorders and associated genes
• PubMed – a database of scientific articles and research papers

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides a valuable resource for scientific research, clinical studies, and genetic testing. This catalog includes information about various diseases, their associated genes, and inheritance patterns.

One rare disease listed in OMIM is Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy, also known as Nasu-Hakola disease. This disease typically affects persons in their thirties and is characterized by cyst-like structures in bones and other tissues.

The Seattle Genetics Information Center is an advocacy and support center for affected individuals and their families. They provide additional information, resources, and support for this rare condition.

OMIM also provides references to scientific studies and other resources related to Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy. This includes links to PubMed citations, clinical trials on ClinicalTrials.gov, and other relevant research.

To learn more about Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy and other rare diseases, visit the OMIM website and explore their catalog.

Disclaimer: The information provided in this article is for educational purposes only and should not be used for diagnosis or as a substitute for professional medical advice. Please consult with your healthcare provider for further information and testing.

Scientific Articles on PubMed

In the field of rare neurological diseases, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is a condition that affects the brain.

This condition is extremely rare, with a frequency of less than 1 per 1,000,000 individuals. Testing for PLOSL can be challenging due to its rarity.

The affected persons with PLOSL may experience symptoms such as loss of brain tissue, cyst-like formations, and a progressive loss of neurological function.

Research on PLOSL has identified two genes, called DAP12 and TYROBP, that are associated with the development of this condition. Additional research is ongoing to learn more about the inheritance and causes of PLOSL.

Support and advocacy resources for patients and their families affected by PLOSL can be found at the Hakola Research Center in Seattle, which offers information, patient support, and a catalog of scientific articles on PubMed about PLOSL and other rare neurodegenerative diseases.

For more information on PLOSL and ongoing clinical trials, visit ClinicalTrials.gov, a comprehensive database of clinical trials and research studies.

References

• OMIM. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Available from: https://www.omim.org/entry/221770
• Hakola P, et al. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Genereviews. 2010 Jul 20. Available from: https://www.ncbi.nlm.nih.gov/books/NBK8499/
• Clinicaltrials.gov. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Available from: https://clinicaltrials.gov/ct2/results?cond=Polycystic+lipomembranous+osteodysplasia+with+sclerosing+leukoencephalopathy
• Seattle Children’s Hospital Research Resources. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Available from: https://www.seattlechildrens.org/conditions/brain-nervous-system-mental-health/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy-plosl/
• Additional scientific and clinical references on polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) can be found in the catalog of the PubMed database.