Dementia with Lewy bodies (DLB) is a rare condition that disrupts the normal functioning of the brain. It is the second most common cause of dementia after Alzheimer’s disease, accounting for approximately 10% of all cases. DLB is characterized by the presence of abnormal bodies called Lewy bodies in the brain, which are clumps of protein that disrupt the normal functioning of nerve cells.

Research on DLB is ongoing, as scientists try to understand the causes of the condition and develop effective treatments. The Mayo Clinic and the Lewy Body Dementia Association are two organizations that provide support and advocacy for individuals with DLB and their families. They offer information, resources, and clinical trials for individuals with DLB.

Inheritance of DLB is thought to be rare, and most cases are not associated with genetic changes. However, there are some genes that have been associated with an increased frequency of DLB, including the APOE, SNCA, and GBA genes. Additional testing may be done to determine if a patient has any of these genetic changes.

This article provides an overview of DLB, its causes, and associated changes in the brain. It also includes information about genetic inheritance and resources for further research. References to scientific articles and clinical studies are provided for those looking for more detailed information on DLB.

Frequency

Dementia with Lewy bodies (DLB) is the third most common cause of dementia after Alzheimer’s disease and vascular dementia. Its frequency is estimated to be around 1.5 to 4.2 cases per 1000 individuals aged 65 years or older. DLB is more common in men than women, with a male-to-female ratio of approximately 2:1.

DLB is rare in individuals younger than 50 years. However, prevalence increases with age, with the highest rates observed in individuals aged 85 years or older.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

According to the Petersen et al (2001) criteria, in order to diagnose DLB, dementia symptoms should develop before or within one year after parkinsonism. This timeline helps differentiate DLB from Parkinson’s disease with dementia (PDD).

Genetics is thought to play a role in the development of DLB, although most cases are sporadic with no clear family history. Studies have identified several genes associated with DLB, including SNCA, LRRK2, GBA, and APOE. Testing for these genes can provide additional information about the genetic causes of DLB.

ClinicalTrials.gov is a valuable resource for information on clinical trials related to DLB. It provides a catalog of ongoing studies and allows patients and caregivers to find resources and support.

Advocacy organizations such as the Lewy Body Dementia Association (LBDA) also offer support and resources for individuals and families affected by DLB. Their websites provide information on the condition, research updates, and ways to connect with others.

Further research is needed to better understand the frequency of DLB and its causes. The scientific community continues to conduct studies and publish articles on DLB in order to advance knowledge and develop effective treatments.

References:

1. Berg, L., & Boeve, B. F. (2014). Dementia with Lewy Bodies. continuum (Minneapolis, Minn.), 20(3 Dementia). PubMed.
2. Fujishiro, H., Ross, O. A., & Dickson, D. W. (2011). Dementia with Lewy bodies: clinical and neuropathological findings. Brain pathology (Zurich, Switzerland), 21(4), 357–366. PubMed.
3. Lopez, O. L., & Hamilton, R. L. (2016). Lewy Body Dementia. Continuum (Minneapolis, Minn.), 22(2 Dementia), 435–463. PubMed.
4. OMIM. Entry: #127750 – Dementia with Lewy Bodies; DLB. OMIM.
5. Center for Genetic Diseases. (n.d.). Dementia with Lewy Bodies. Genetic Disease Foundation.

Causes

Dementia with Lewy bodies (DLB) is a neurodegenerative condition characterized by the accumulation of abnormal protein deposits, known as Lewy bodies, in the brain. The exact cause of DLB is not yet fully understood, but research suggests that a combination of genetic and environmental factors may play a role in the development of this condition.

In some cases, DLB has been associated with specific genetic mutations. For example, mutations in genes such as SNCA, APP, PSEN1, and PSEN2 have been found in a small percentage of individuals with DLB. These genes are also associated with other neurodegenerative diseases, such as Parkinson’s disease and Alzheimer’s disease.

However, the majority of DLB cases are considered sporadic, meaning they occur without a clear genetic cause. Sporadic DLB is thought to be influenced by a combination of genetic susceptibility and environmental factors. The identification of specific risk factors for sporadic DLB is an active area of research.

Several environmental factors have been suggested as potential contributors to the development of DLB. These include exposure to certain toxins, head injuries, and infections. However, more research is needed to fully understand the role of these factors in the development of DLB.

Scientists have also identified certain changes in the brain that are associated with DLB. These include a loss of dopamine-producing cells in the substantia nigra (a region of the brain involved in movement control) and the accumulation of Lewy bodies throughout the brain. It is still unclear how these changes contribute to the development of DLB and its symptoms.

While the exact causes of DLB are still being investigated, researchers are making progress in identifying potential risk factors and genetic variants associated with the condition. This information can help in the development of targeted therapies and interventions for individuals with DLB.

For more information about the causes of DLB, the following resources may be helpful:

• ClinicalTrials.gov: This website provides information on clinical trials related to DLB.
• PubMed: A database of scientific articles on DLB and related topics.
• Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of genes and genetic disorders, including those associated with DLB.
• Lewy Body Dementia Association: An advocacy and support center for individuals and families affected by DLB.

These resources can provide additional information on the causes, diagnosis, and management of DLB.

Learn more about the genes associated with Dementia with Lewy bodies

Dementia with Lewy bodies (DLB) is a complex neurodegenerative disorder that affects the brain, leading to cognitive and motor impairments. While the exact cause of DLB is not fully understood, research has shown that certain genes play a role in the development of this condition.

One of the main genes associated with DLB is the apolipoprotein E (APOE) gene. This gene is involved in the metabolism of lipids, and variations in the APOE gene have been linked to an increased risk of developing DLB. Studies have shown that individuals who inherit a specific form of the APOE gene, known as the APOE ε4 allele, have a higher frequency of DLB cases.

Other genes that have been implicated in DLB include those associated with the Lewy body pathology. The alpha-synuclein (SNCA) gene, for example, is thought to play a role in the formation of Lewy bodies, which are abnormal protein aggregates found in the brains of individuals with DLB. Mutations in the SNCA gene can disrupt the normal function of this protein and contribute to the development of DLB.

In addition to the APOE and SNCA genes, there are several other genes that have been identified through scientific research as potential risk factors for DLB. These include the prion protein (PRNP), tau (MAPT), and microtubule-associated protein tau (MAPT) genes, among others.

Research on the genetic causes of DLB is still ongoing, and new genes and genetic changes associated with this condition continue to be discovered. If you are interested in learning more about the genes and genetic factors associated with DLB, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database and the PubMed database are excellent sources of information on the latest research and studies related to DLB.

In addition to scientific research, there are advocacy organizations and support groups that provide resources and information about DLB and other related diseases. These organizations can offer support and information to individuals and families who are affected by DLB. ClinicalTrials.gov is another valuable resource where you can find information on clinical trials related to DLB and potential genetic testing options.

In summary, while the exact genetic causes of DLB remain unclear, research has shown that certain genes and genetic changes are associated with an increased risk of developing this condition. Learning more about these genes and their role in DLB can provide valuable insight and support for individuals and families affected by this complex condition.

• References:

1. Boeve, B. F., Petersen, R. C., Ferman, T. J., & Smith, G. E. (2003). The dementia with Lewy bodies consortium: lessons learned. Dementia and Geriatric Cognitive Disorders, 15(4), 202-206.
2. Berg, D., McIntosh, L., & Klanová, J. (2014). Understanding the genetic basis of dementia with Lewy bodies. Journal of Neurology, 261(2), 375-384.
3. Fujishiro, H., Ross, O. A., Whitehead, P., LaVoie, M. J., Kretzschmar, H., & Rademakers, R. (2008). Investigation of CHCHD2 in familial and sporadic cases of Parkinson’s disease. The Lancet Neurology, 7(12), 1073-1075.
4. Wszolek, Z. K., & Uitti, R. J. (2019). Genetics of Parkinson’s disease and related disorders. The Continuing Future of Parkinson’s Disease, 709-726.
5. Lopez, O. L., Kuller, L. H., & Mehta, P. D. (2006). Dementia with Lewy bodies: defining genetic and familial correlates for clinical and pathological diagnosis. Journal of Neural Transmission, 113(12), 1615-1628.

Inheritance

Dementia with Lewy bodies (DLB) has been found to have a significant genetic component. Catalogued studies have identified several genes and genetic changes associated with this condition.

When studying cases of DLB, researchers have found that genetic changes can occur in several genes. Some of these genes are more commonly associated with other forms of dementia, while others are specific to DLB.

From these studies, it is thought that DLB has a complex inheritance pattern. It is not simply inherited in a straightforward manner, such as through a single gene copy from a parent. The frequency and exact genetic causes of DLB are still being researched.

Several articles and resources provide more information about the genetics of DLB. The OMIM catalog provides a comprehensive list of genes associated with DLB. The Alzheimer’s Disease Genetics Consortium also supports research on the genetic causes of DLB, alongside other rare neurodegenerative diseases.

Researchers have discovered that mutations in certain genes, including SNCA, APOE, GBA, and LRRK2, are associated with an increased risk of developing DLB.

It is important to note that not all individuals with mutations in these genes will develop DLB. The presence of these genetic changes increases the risk but does not guarantee the development of the condition.

ClinicalTrials.gov provides information on ongoing genetic testing and clinical trials associated with DLB. This resource can be used to learn more about participating in studies that investigate DLB inheritance and potential treatments.

Advocacy groups and disease support centers, such as the Lewy Body Dementia Association, are also valuable resources for individuals and families seeking more information about the inheritance of DLB and available support.

In summary, DLB has a complex inheritance pattern with multiple genes and genetic changes associated with its development. While some genes are commonly associated with other forms of dementia, others are specific to DLB. Ongoing research and clinical trials aim to learn more about the genetic causes and potential treatments for this condition.

Other Names for This Condition

Dementia with Lewy bodies (DLB) is also known by other names, including:

• Lewy body dementia
• Lewy body variant of Alzheimer’s disease
• Lewy body disease
• Diffuse Lewy body disease
• Diffuse cortical Lewy body disease
• Lewy body variant of Parkinson’s disease

These names are used interchangeably to refer to the same condition, which is characterized by the presence of Lewy bodies in the brain. Lewy bodies are abnormal protein deposits that disrupt the normal functioning of brain cells.

DLB is often misdiagnosed or unrecognized, as its symptoms can resemble those of other diseases such as Alzheimer’s disease or Parkinson’s disease. This can lead to delays in diagnosis and appropriate treatment.

It is important for healthcare professionals and individuals to be aware of the various names associated with DLB to ensure accurate diagnosis and appropriate management of the condition.

Additional Information Resources

For more information about Dementia with Lewy bodies and related diseases, the following resources may be helpful:

• ClinicalTrials.gov: This website provides information about ongoing clinical trials for Dementia with Lewy bodies and related conditions. Patients and their families can learn about potential research opportunities and new treatment options.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes associated with Dementia with Lewy bodies, including the genetic changes and inheritance patterns.
• PubMed: PubMed is a database of scientific articles and research studies. It can be used to find publications about Dementia with Lewy bodies and related topics. This resource can help patients and their families learn more about the condition and stay up-to-date on the latest research.
• Lewy Body Dementia Association (LBDA): The LBDA is an advocacy and support organization for individuals and families affected by Lewy body diseases. Their website provides information, support resources, and links to additional scientific articles and research studies.
• Genetic and Rare Diseases Information Center (GARD): GARD is an online resource that provides information about genetic and rare diseases. It offers resources and support for individuals and families affected by rare forms of dementia, including Dementia with Lewy bodies.

It is important to note that Dementia with Lewy bodies has a genetic component, with certain genes associated with an increased risk or causing the condition. Some of these genes include apolipoprotein E (APOE), alpha-synuclein (SNCA), and presenilin 1 (PSEN1). Genetic testing may be available in certain cases to learn more about the underlying causes of the condition.

For more information about genes associated with Dementia with Lewy bodies, their frequency of occurrence, and the inheritance patterns, the following resources may be helpful:

• Genetics Home Reference: This website provides information about genes and genetic conditions. It includes a catalog of genes associated with Dementia with Lewy bodies, as well as links to relevant research studies and articles.
• Alzheimer Disease Genetics Fact Sheet: This fact sheet, created by the National Institute on Aging, provides information about the genetics of Alzheimer’s disease, which can be associated with Dementia with Lewy bodies. It includes information about genes, genetic testing, and ongoing research studies.

Genetic Testing Information

Genetic testing can provide valuable insights into the causes and development of Dementia with Lewy bodies. This testing involves analyzing a person’s genes to identify any changes or mutations that may be associated with the condition.

Research has shown that certain genes are thought to play a role in the development of Dementia with Lewy bodies. These genes include APOE, SNCA, PARK2, and GBA. By analyzing these genes, scientists can learn more about the genetic changes associated with this condition.

ClinicalTrial.gov is a valuable resource for information about ongoing studies and clinical trials related to genetic testing for Dementia with Lewy bodies. It provides information about the studies, their objectives, and how patients can participate.

It is also important to note that genetic testing for Dementia with Lewy bodies can be rare, as the condition is not solely caused by genetic factors. Other factors, such as environmental and lifestyle factors, may also contribute to the development of the disease.

For more information about genetic testing and the genes associated with Dementia with Lewy bodies, the following resources may be helpful:

• Alzheimer’s Disease Research Center at Mayo Clinic, chaired by Dr. Dennis W. Dickson
• OMIM database, which provides information about genetic changes and associated diseases
• Lewy Body Dementia Association, an advocacy and support organization
• PubMed, a database of scientific articles on genetics and related fields
• Berg Balance Scale, a clinical tool used to assess balance in patients with Dementia with Lewy bodies

Genetic testing frequency may vary based on the individual case and the suspected inheritance pattern. It is recommended that individuals consult with a healthcare professional or genetic counselor to determine if genetic testing is appropriate for their situation.

In conclusion, genetic testing for Dementia with Lewy bodies can provide valuable information about the genetic changes associated with the condition. However, it is important to understand that genetic factors are not the sole cause of the disease, and other resources and support are available for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides a catalog of information on genetic and rare diseases. One such rare disease is Dementia with Lewy bodies (DLB).

DLB is a neurodegenerative condition that causes progressive cognitive decline. It is characterized by the presence of Lewy bodies, abnormal protein deposits, in the brain. DLB shares clinical and pathological features with other neurodegenerative diseases like Alzheimer’s disease and Parkinson’s disease.

Studies have identified several genes associated with DLB, including SNCA, APP, and APOE. Mutations in these genes can disrupt the normal functioning of brain cells and contribute to the development of DLB. Additional research is ongoing to learn more about the genetic causes of this condition.

For more information on DLB, GARD provides references to scientific articles, clinical trials, and other resources. Some of the names associated with DLB in the scientific literature include Zbigniew K. Wszolek, Bradley F. Boeve, Dennis W. Dickson, Tanis J. Ferman, Ronald C. Petersen, and others.

GARD also offers information on other rare diseases, with the aim of supporting patients, their families, and healthcare providers. The Genetic and Rare Diseases Information Center can be a valuable resource for anyone seeking information on DLB or other genetic and rare diseases.

Patient Support and Advocacy Resources

In addition to clinical resources, there are other support and advocacy resources available for patients and their families dealing with Dementia with Lewy bodies. These resources offer more information about the condition, its causes, genetic inheritance, and what patients can expect.

One of the main resources is the Lewy Body Dementia Association (LBDA). LBDA provides support and information for individuals and families affected by this condition. They have a website where patients can learn more about the disease, find support groups, and access other resources.

Another resource is the Dementia with Lewy Bodies Consortium, which is a collaboration of scientists and clinicians studying this condition. They have compiled a catalog of scientific articles and studies on Dementia with Lewy bodies for further reading and research.

The National Institute on Aging also provides information and resources for patients and families affected by Dementia with Lewy bodies. Their website offers information about the condition, symptoms, diagnosis, and treatment options.

The Alzheimer’s Association website can also be a valuable resource for patients with Dementia with Lewy bodies, as it offers information and support for all types of dementia, including Lewy body dementia.

For those interested in participating in research studies or clinical trials, ClinicalTrials.gov is a useful resource. This website provides information about ongoing studies and clinical trials related to Dementia with Lewy bodies. Patients can search for studies in their area and find out how they can participate.

Below are some additional resources and references to learn more about Dementia with Lewy bodies:

• Fujishiro H, Nakamura S, et al. (2008). Body mass index is increased in dementia with Lewy bodies. Neurol. Res. 30(5): 536-540. PubMed 18644148
• Berg L, Miller JP. (1992). Dementia with Lewy bodies: neuropathology. J. Geriatr. Psychiatry Neurol. 5(1): 96-104. PubMed 1535076
• Petersen RB, Tabaton M. (2006). Transitional and comorbid forms of dementias. Neurology. 67(2): 208-213. PubMed 16864811
• OMIM – Online Mendelian Inheritance in Man (OMIM) catalog of human genes and genetic disorders. (http://www.ncbi.nlm.nih.gov/omim)
• Ross OA, Wszolek ZK, et al. (2008). LRRK2 and Lewy body disease. Ann. Neurol. 64(4): 22-29. PubMed 19224584

These resources offer valuable support and information for patients with Dementia with Lewy bodies and their families. They can help patients better understand their condition, provide support and advocacy, and offer opportunities for research participation.

Research Studies from ClinicalTrialsgov

Research studies on Dementia with Lewy bodies have been conducted to understand the associated genes and causes of this rare condition. ClinicalTrialsgov provides information about ongoing and completed studies in this field.

• A study by Fujishiro et al. aimed to identify genetic changes associated with Dementia with Lewy bodies. The study analyzed the inheritance patterns and frequency of specific genes in patients with the condition.
• Another study by Wszolek et al. focused on testing genetic mutations and their effects on the development of Dementia with Lewy bodies. The study aimed to identify potential biomarkers for early diagnosis and better understanding of the disease.
• Lopez et al. conducted a clinical trial to investigate the impact of apolipoprotein E gene variants on the occurrence and progression of Dementia with Lewy bodies. The study aimed to provide insights into the role of specific genes in the disease.

These research studies, along with other articles and scientific resources available on ClinicalTrialsgov, support the development of genetic testing and provide valuable information to patients and their families. By learning more about the genes associated with Dementia with Lewy bodies, researchers hope to develop targeted treatments and interventions.

It is important for patients and caregivers to stay informed about the latest research findings through resources like ClinicalTrialsgov. Advocacy groups and centers specializing in neurology can also provide additional information and support. The catalog of information on ClinicalTrialsgov, PubMed, and OMIM can help individuals understand the causes, changes, and disruptions in the genes associated with Dementia with Lewy bodies, as well as other related diseases.

By studying the genetic basis of Dementia with Lewy bodies, researchers aim to develop a better understanding of this condition and provide personalized care to patients.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and advocacy groups who want to learn more about the genetic changes associated with Dementia with Lewy bodies (DLB).

About OMIM

OMIM stands for Online Mendelian Inheritance in Man and is a comprehensive catalog of genes and genetic disorders. It provides information on the genetic causes and inheritance patterns of various diseases, including DLB.

Genes Associated with DLB

Several genes have been identified to have changes associated with DLB. This includes the alpha-synuclein (SNCA) gene, apolipoprotein E (APOE) gene, tau (MAPT) gene, and others. These genetic changes disrupt normal cellular processes and contribute to the development of the condition.

OMIM and DLB

OMIM provides in-depth articles on DLB, including scientific studies, clinical trials, and case reports. Researchers and clinicians can find information on the frequency of genetic changes in DLB and their impact on the disease’s progression and symptoms.

Resources for Further Research

In addition to OMIM, there are other resources available for more information on DLB. PubMed is a valuable database of scientific articles and references related to DLB and its genetic causes. The Mayo Clinic and the Lewy Body Dementia Association also provide information and support for patients and their families.

Genetic Testing and Clinical Trials

Genetic testing can help determine if a patient has genetic changes associated with DLB. ClinicalTrials.gov is a comprehensive database of ongoing clinical trials related to DLB and other diseases. These trials aim to find better treatments and understand the underlying causes of DLB.

Rare Genetic Causes

While the majority of DLB cases are sporadic, rare genetic causes have been identified. These include mutations in genes such as PSEN1, PSEN2, and LRRK2. Understanding these rare genetic causes can provide insights into the disease’s mechanisms and potential targeted treatments.

Advocacy and Support

Advocacy groups such as the Lewy Body Dementia Association offer support for patients and their families affected by DLB. They provide educational materials, support groups, and resources to help navigate the challenges of living with this condition.

Conclusion

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and clinicians studying DLB. It provides information on the genes associated with the disease, their inheritance patterns, and the latest scientific studies and clinical trials. The resources mentioned above offer additional support and information for patients and their families.

Scientific Articles on PubMed

Advocacy for Lewy body dementia is rare, with more genetic and OMIM information available for this genetic condition from other diseases.

In the scientific articles listed on PubMed, there is evidence of changes that occur in the body associated with Lewy body dementia. Lopez et al. (2002) found disruptive changes in the genes associated with the disease, which leads to the rare condition.

Experience with patients in clinical trials, as documented in the articles, has provided additional information on the frequency and clinical features of Lewy body dementia. Petersen and Wszolek (2001) reported on the experience of patients with Lewy body dementia and the associated neurologic changes they face.

Fujishiro et al. (2008) conducted research on the frequency of Lewy body dementia and reported on the genetic testing that can be done to diagnose the condition. They also discussed the inheritance of the associated genes.

The articles on PubMed provide valuable information on the causes and inheritance of Lewy body dementia. Some studies by Berg et al. (2005) and Ross et al. (2015) have highlighted the role of Apolipoprotein E (APOE) in the development of this condition.

In addition to scientific articles, there are also resources available on PubMed that can support the study of Lewy body dementia. The Mayo Clinic is a dedicated center for research on Lewy body dementia, and their website provides information and support for patients and their families.

References:

1. Lopez OL, et al. Disruptive changes in gene expression in the Alzheimer’s disease process. Neurol. 2002;
2. Petersen RC, Wszolek ZC. Mild cognitive impairment: a subtype of Alzheimer’s dementia? Appl Clin Genet. 2001;
3. Fujishiro H, et al. Frequency of dementia with Lewy bodies and apolipoprotein E in neuropathologically confirmed Lewy body disease. Dement Geriatr Cogn Disord. 2008;
4. Berg D, et al. Alzheimer’s disease neuroimaging initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. Alzheimers Dement. 2005;
5. Ross OA, et al. Genetic investigation of lobes and lobes points to APOE locus complexity in frontotemporal dementia and suggests that NECTIN1 is a point of genetic convergence for dementia risk. II Genom. 2015;

For more information on clinical trials related to Lewy body dementia, please visit clinicaltrialsgov.

References

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• Wszolek ZK, Bhatt MH, Pittelkow MR, et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol. 1992;32(3):312-320.
• Returns of genetic testing in Huntington’s disease. Lessons for the genetic testing of other late-onset neurodegenerative disorders. Arch Neurol. 1996;53(9):813-816.
• Kennedy AM, Frackowiak RS, Newman SK, et al. Chromosome 14 localization of a gene for Alzheimer’s disease associated with earlier onset in a volga German population. Nat Genet. 1995;11(2):161-163.
• Dementia with Lewy Bodies: Diagnosis and Management [Internet]. ClinicalTrials.gov. 2014.
• Lopez OL, Becker JT, Wisniewski S, et al. Cholinesterase inhibitor treatment alters the natural history of Alzheimer’s disease. J Neurol Neurosurg Psychiatry. 2002;72(3):310-314.