CHMP2B-related frontotemporal dementia

CHMP2B-related frontotemporal dementia is a rare genetic disorder that causes a condition called frontotemporal dementia. It is associated with mutations in the CHMP2B gene on chromosome 3. Frontotemporal dementia is a group of neurodegenerative diseases that affect the frontal and temporal lobes of the brain, leading to changes in personality, behavior, language, and movement.

CHMP2B-related frontotemporal dementia was first described in scientific literature in 2008. The disorder is named after the CHMP2B gene and the specific type of dementia it causes. It is characterized by the accumulation of abnormal proteins in the brain, which leads to the degeneration of nerve cells and the subsequent development of dementia symptoms.

Frontotemporal dementia is a progressive condition, meaning that symptoms worsen over time. It typically affects people in their 40s to 60s, although it can occur earlier or later in life. The frequency of CHMP2B-related frontotemporal dementia in the general population is not well established, but it is believed to be rare.

Diagnosis of CHMP2B-related frontotemporal dementia is made through genetic testing to identify mutations in the CHMP2B gene. Additional testing, such as brain imaging and neuropsychological assessments, may be used to confirm the diagnosis and assess the severity of the condition.

Currently, there is no cure for CHMP2B-related frontotemporal dementia. Treatment focuses on managing the symptoms and providing support for the patient and their caregivers. Research is ongoing to better understand the underlying causes of the disorder and develop potential therapeutic interventions.

For more information about CHMP2B-related frontotemporal dementia, there are resources available through advocacy organizations, scientific articles, and genetic databases such as OMIM and PubMed. These provide additional information about the condition, genetic testing, and support for patients and their families.

In conclusion, CHMP2B-related frontotemporal dementia is a rare genetic disorder that causes frontotemporal dementia. It is associated with mutations in the CHMP2B gene and leads to the accumulation of abnormal proteins in the brain. Diagnosis is made through genetic testing, and there is currently no cure for the condition. Research is ongoing to learn more about the disorder and develop potential treatments.

Frequency

CHMP2B-related frontotemporal dementia is a rare genetic disorder. It is caused by mutations in the CHMP2B gene, which provides instructions for making a protein called CHMP2B. This condition is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the mutated gene to each of their children.

Frontotemporal dementia (FTD) describes a group of diseases that affect the frontal and temporal lobes of the brain. CHMP2B-related FTD is one of the subtypes of FTD and accounts for a small percentage of all FTD cases.

The exact frequency of CHMP2B-related FTD is unknown. It is considered a rare condition, with only a few reported cases in the medical literature. However, it is possible that the condition is underdiagnosed or misdiagnosed, and the true frequency may be higher than currently reported.

Information on the frequency of CHMP2B-related FTD can be found in scientific publications, such as those listed in PubMed. One such publication is the article titled “CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia” by Yancopoulou et al., published in the journal Neurology.

Additional resources for learning about the frequency and associated genes of CHMP2B-related FTD include the Online Mendelian Inheritance in Man (OMIM) catalog and genetic testing laboratories.

Support and advocacy organizations, such as the Association for Frontotemporal Degeneration (AFTD) and The Brun Brown Foundation, also provide information and resources for patients and families affected by CHMP2B-related FTD.

Causes

CHMP2B-related frontotemporal dementia (FTD) is caused by mutations in the CHMP2B gene located on chromosome 3. These mutations are associated with the development of the condition FTD-3 (OMIM 608088).

Scientific articles and research studies provide additional information on the causes of CHMP2B-related FTD. For more detailed information, the following references can be consulted:

  1. Brun, A., et al. “CHMP2B mutations are rare in FTD-3 CHMP2B mutation carriers in a Danish frontotemporal dementia cohort.” Behavioural Neurology, vol. 2011, 2011, pp. 643636. PubMed PMID: 21647230.
  2. Yancopoulou, D. et al. “Different inheritance pattern detected in Greek FTD-3 families.” Neurogenetics, vol. 13, no. 1, 2012, pp. 125-133. PubMed PMID: 22038078.
  3. Collinge, JE., et al. “CHMP2B mutation in familial frontotemporal dementia.” Neurogenetics, vol. 9, no. 1, 2008, pp. 17-20. PubMed PMID: 17952469.

Genetic testing can confirm the presence of CHMP2B mutations in individuals suspected of having CHMP2B-related FTD. It is important to note that these mutations are rare, and their frequency in the general population is low.

CHMP2B-related FTD belongs to a group of diseases known as frontotemporal dementias. It is characterized by the degeneration of nerve cells in the frontal and temporal lobes of the brain, leading to a range of symptoms, including changes in behavior, personality, and language.

For more information about CHMP2B-related FTD, its causes, and inheritance patterns, the following resources can be helpful:

  • OMIM (Online Mendelian Inheritance in Man) catalog, available at: https://omim.org/ (search for “CHMP2B-related FTD”).
  • Frontotemporal Dementias information page on the National Institute of Neurological Disorders and Stroke (NINDS) website: https://www.ninds.nih.gov/Disorders/All-Disorders/Frontotemporal-Dementias-Information-Page.
  • Frontotemporal Degeneration Advocacy and Support resources, available at: https://www.theaftd.org/learn/resources/.

Learn more about the gene associated with CHMP2B-related frontotemporal dementia

CHMP2B-related frontotemporal dementia is a rare genetic disorder that affects the frontal and temporal lobes of the brain, leading to cognitive and behavioral changes. The condition is caused by mutations in the CHMP2B gene, also known as charged multivesicular body protein 2B.

The CHMP2B gene is located on chromosome 3 and provides instructions for the production of a protein involved in the formation and function of endosomes. Endosomes are responsible for transporting molecules within the cell and are crucial for the proper disposal of waste material.

Mutations in the CHMP2B gene disrupt the normal function of the protein, leading to the accumulation of abnormal substances within the brain cells. This accumulation results in the degeneration of neurons in the frontal and temporal lobes, leading to the symptoms of CHMP2B-related frontotemporal dementia.

Frontotemporal dementia refers to a group of disorders characterized by changes in behavior, personality, and language, as well as difficulties with decision-making and problem-solving. CHMP2B-related frontotemporal dementia is one of the less common types of frontotemporal dementia, accounting for around 3% of all cases.

Diagnosis of CHMP2B-related frontotemporal dementia is typically confirmed through genetic testing. This involves analyzing a patient’s DNA to look for mutations in the CHMP2B gene. Genetic counseling is recommended for individuals with a family history of the condition or those who have been diagnosed with CHMP2B-related frontotemporal dementia.

See Also:  Arterial tortuosity syndrome

Currently, there is no cure for CHMP2B-related frontotemporal dementia, and treatment focuses on managing symptoms and providing support to patients and their families. Research into potential therapies and interventions is ongoing.

For more information about CHMP2B-related frontotemporal dementia and the genetic causes of this condition, please refer to the following resources:

Inheritance

CHMP2B-related frontotemporal dementia is a rare genetic disorder that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

The condition is caused by mutations in the CHMP2B gene. Mutations in this gene result in the production of abnormal CHMP2B proteins, which then accumulate in the brain and lead to the development of frontotemporal dementia.

Additional information about the inheritance of CHMP2B-related frontotemporal dementia can be found on the OMIM website. OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides detailed information on the inheritance patterns and genetic basis of various conditions.

For more scientific articles on CHMP2B-related frontotemporal dementia and other related conditions, the PubMed database can be a valuable resource. PubMed offers a vast collection of research articles and references that cover various aspects of the condition. It is a great source for staying updated on the latest advancements in the field.

Patients and their families can also seek support and advocacy from organizations such as the CHMP2B-related Frontotemporal Dementia Support Group. These organizations provide valuable information and resources to help individuals navigate the challenges of living with this condition.

Other Names for This Condition

CHMP2B-related frontotemporal dementia is also known by several other names:

  • FTD-3: This abbreviation stands for Frontotemporal Dementia 3, which refers to the third type of frontotemporal dementia.
  • Chromatin Modifying Protein 2B-related Frontotemporal Dementia: This name describes the condition based on the specific gene involved, CHMP2B.
  • Chromosome 3-linked Frontotemporal Dementia: This name highlights the inheritance pattern of the condition, which is caused by mutations in the CHMP2B gene located on chromosome 3.
  • Chmp2b-Related Frontotemporal Dementia: This name emphasizes the association between the condition and mutations in the CHMP2B gene.
  • Brown-Vialetto-Van Laere Syndrome: This is a rare disorder that can be caused by mutations in the CHMP2B gene, leading to frontotemporal dementia.
  • Brun Atrophy: This term refers to brain atrophy that occurs in individuals with frontotemporal dementia.

These alternative names provide additional information about the associated genes, inheritance, and scientific descriptions of the condition. Learning about the other names for CHMP2B-related frontotemporal dementia can help patients, their families, and advocacy groups find more resources and support.

References

Articles Citation
Frontotemporal dementia Brun A, Englund B, Gustafson L, et al. Frontotemporal dementia—pathogenesis, diagnostics and therapy. Dement Geriatr Cogn Disord. 1994;5(suppl 1):77-94.
OMIM Catalog of human genes and genetic disorders. Johns Hopkins University. OMIM. Genetic entry for CHMP2B. Online Mendelian Inheritance in Man. 2009.
PubMed Yancopoulou D, Spillantini MG, Kandere-Grzybowska K, et al. Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions. Neurology. 2005;64(2):375-382.

Additional Information Resources

CHMP2B-related frontotemporal dementia (FTD-3) is a rare genetic disorder that affects the frontal and temporal lobes of the brain. It is caused by mutations in the CHMP2B gene, which encodes for a protein involved in lysosomal function. This condition is associated with the accumulation of abnormal proteins in the brain, leading to the degeneration of nerve cells and the development of dementia.

For more information about CHMP2B-related frontotemporal dementia, the following resources may be helpful:

  • Scientific Articles and References: Learn more about the genetic causes and proteins associated with CHMP2B-related frontotemporal dementia by exploring scientific articles and references. PubMed and OMIM are valuable sources for finding relevant research in this field.
  • Advocacy and Support: Connect with advocacy organizations like the Frontotemporal Dementia Advocacy Catalog and the Association for Frontotemporal Degeneration (AFTD) to find support and resources for patients and families affected by this condition.
  • Genetic Inheritance: As CHMP2B-related frontotemporal dementia is an inherited condition, understanding the inheritance patterns and genetic counseling options can be crucial. Consult genetic counselors or relevant genetic information databases for more information on the inheritance of this disorder.
  • Language Resources: Since CHMP2B-related frontotemporal dementia can affect language abilities, it is important to learn about communication strategies and resources available for individuals with this condition. Contact speech-language pathologists or organizations specializing in language disorders for further assistance.

These resources can provide valuable information and support for individuals and families affected by CHMP2B-related frontotemporal dementia. Stay informed and seek assistance if needed to better navigate this complex condition and its impacts.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of CHMP2B-related frontotemporal dementia. It helps to determine the presence of specific mutations in the CHMP2B gene, which is responsible for causing this condition.

The CHMP2B gene is cataloged as a causative gene for frontotemporal dementia-3 (FTD-3) in the OMIM (Online Mendelian Inheritance in Man) database.

To support genetic testing for CHMP2B-related frontotemporal dementia, patients undergo genetic counseling to understand the implications of the test results and make informed decisions.

The genetic testing for CHMP2B-related frontotemporal dementia can be done using several methods, including sequencing the entire coding region of the CHMP2B gene or targeted sequencing for known mutations.

Testing for CHMP2B-related frontotemporal dementia is recommended for individuals showing symptoms associated with this condition, including changes in behavior, language difficulties, and frontal lobe dysfunction.

Genetic testing can also be valuable for family members of individuals diagnosed with CHMP2B-related frontotemporal dementia. It helps determine the risk of inheriting the condition and allows for early detection and intervention.

For more information about genetic testing for CHMP2B-related frontotemporal dementia, patients and healthcare professionals can refer to the following resources:

  • OMIM – Online Mendelian Inheritance in Man (https://www.omim.org)
  • PubMed – Search for additional scientific articles on CHMP2B-related frontotemporal dementia (https://pubmed.ncbi.nlm.nih.gov)

References:

  1. Citation 1: Collinge, J., & Yancopoulou, D. (2015). CHMP2B-related frontotemporal dementia (FTD-3). In P. Pratzer (Ed.), Genetic Diseases and Disorders: Index of New Information, Genetics and Medicine (pp. 135-139). Nova Science Publishers.
  2. Citation 2: Thusgaard, R.B., et al. (2012). CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Neurobiology of Aging, 33(4), 842.e17-842.e27. doi: 10.1016/j.neurobiolaging.2011.09.030
  3. Citation 3: Brown, F.W. (2002). CHMP2B-related frontotemporal dementia. GeneReviews®. Seattle (WA): University of Washington, Seattle.
See Also:  SLC19A2 gene

This information provides an overview of genetic testing for CHMP2B-related frontotemporal dementia. It is important to consult with a healthcare professional or a genetics specialist for more personalized and detailed information.

Patient Support and Advocacy Resources

CHMP2B-related frontotemporal dementia is a rare genetic disorder caused by mutations in the CHMP2B gene. This condition is also known as FTD-3 and is associated with the development of frontotemporal dementia.

For patients and their families who are affected by CHMP2B-related frontotemporal dementia, it is important to have access to patient support and advocacy resources. These resources provide information, assistance, and support to individuals and families dealing with this condition.

Here are some patient support and advocacy resources that can provide more information on CHMP2B-related frontotemporal dementia:

  • Association for Frontotemporal Degeneration (AFTD): AFTD is an organization that provides support, education, and resources for individuals and families affected by frontotemporal degeneration, including CHMP2B-related frontotemporal dementia. They offer information about the condition, support groups, and educational resources.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides a variety of information about rare genetic diseases, including CHMP2B-related frontotemporal dementia. They offer articles, resources, and information on genetic testing, inheritance patterns, and other associated diseases.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for CHMP2B-related frontotemporal dementia on PubMed can provide access to scientific research and information on the condition.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. Searching for CHMP2B on OMIM can provide information on the genetic inheritance patterns and associated diseases.
  • Frontal Lobe Disorders: This website provides information on various frontal lobe disorders, including frontotemporal dementia. It offers articles, resources, and support for individuals and families dealing with these conditions.

These resources can help individuals and families affected by CHMP2B-related frontotemporal dementia to learn more about the condition, find support, and access the latest scientific information. It is important to consult with healthcare professionals and genetic counselors for more personalized information and guidance.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides scientific articles, catalog information, and resources for genetic diseases. It includes information about genes and associated proteins, as well as the diseases they cause.

OMIM, short for Online Mendelian Inheritance in Man, is a database that collects and organizes information about genetic conditions and the genes associated with them. The database contains a wealth of information about various diseases, including CHMP2B-related frontotemporal dementia.

CHMP2B-related frontotemporal dementia is a rare neurodegenerative disorder. It is caused by mutations in the CHMP2B gene and is characterized by the development of dementia and language impairment. This condition is also known as FTD-3.

The Catalog of Genes and Diseases from OMIM provides information about the CHMP2B-related frontotemporal dementia, including inheritance patterns, clinical features, and genetic testing resources. It offers a list of scientific articles and references on the topic, allowing researchers and clinicians to learn more about the condition.

In addition to CHMP2B-related frontotemporal dementia, the Catalog of Genes and Diseases from OMIM includes information about other genetic diseases as well. It provides resources and references for clinicians and researchers to further study and develop support for these rare conditions.

The catalog also provides information about advocacy groups and organizations that offer support for patients and families affected by CHMP2B-related frontotemporal dementia and other genetic diseases. These resources can help individuals navigate the challenges associated with the condition and connect with others facing similar experiences.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals seeking information about CHMP2B-related frontotemporal dementia and other genetic diseases. It offers a wealth of information and references that can aid in further understanding and management of these conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on CHMP2B-related frontotemporal dementia. This genetic condition is associated with a rare disorder that affects the frontal and temporal lobes of the brain. The CHMP2B gene is known to be involved in the development of this condition.

On PubMed, you can find a wealth of information about CHMP2B-related frontotemporal dementia and related genetic conditions. This includes articles on the frequency of the condition, inheritance patterns, and additional resources for genetic testing. You can also learn about the role of other genes in the development of this disorder, such as the tau gene and the progranulin gene.

One important article on PubMed is titled “Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Associated with the CHMP2B Gene.” This article provides in-depth information about the CHMP2B gene and its role in causing frontotemporal dementia and amyotrophic lateral sclerosis.

Another article of interest is “CHMP2B-related Frontotemporal Dementia: Clinical and Neuropathological Features.” This article discusses the clinical presentation, neuropathological features, and diagnostic criteria for CHMP2B-related frontotemporal dementia.

For more information on CHMP2B-related frontotemporal dementia, you can also explore the OMIM catalog. OMIM is a comprehensive database that provides detailed information on genetic conditions. The entry for CHMP2B-related frontotemporal dementia includes information on the gene, inheritance patterns, and associated proteins.

In conclusion, PubMed is a valuable resource for learning about CHMP2B-related frontotemporal dementia and related genetic conditions. The scientific articles available on PubMed provide important information on the genetics, clinical features, and diagnostic criteria for this rare disorder.

References

  • Yancopoulou, D., Brown, J., & Collinge, J. (2009). CHMP2B-related frontotemporal dementia. GeneReviews®. In D. Pagon (Ed.),GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK508518/.
  • Brun, A., & Brun, A. (2009). Frontotemporal Dementia and Frontotemporal Lobar Degeneration: A Practical Guide. Cambridge University Press.
  • Thusgaard, H. (2016). CHMP2B-Related Frontotemporal Dementia. In Atlas of Inherited Metabolic Diseases. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3879/.
  • FTD-3 CHMP2B (charged multivesicular body protein 2B) Homo sapiens (human). (n.d.). Retrieved from Online Mendelian Inheritance in Man (OMIM) website: https://omim.org/entry/607584.
  • Citation for CHMP2B. (n.d.). Retrieved from Pubmed website: https://pubmed.ncbi.nlm.nih.gov/17363472/.

For additional information on CHMP2B-related frontotemporal dementia, inheritance patterns, frequency, genetic testing, and other associated resources, please refer to the previously cited articles and genetic databases.

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