Adult polyglucosan body disease

Adult polyglucosan body disease (APBD) is a rare genetic condition that affects the nervous system. It was first described by Argov and Vanishinger in 1980 and it is also known by names such as adult polyglucosan body neuropathy and glycogen branching enzyme deficiency.

APBD is caused by mutations in the GBE1 gene, which is responsible for the production of an enzyme called glycogen branching enzyme. This enzyme plays a crucial role in the breakdown of glycogen, a complex sugar that is stored in cells. In individuals with APBD, mutations in the GBE1 gene lead to a deficiency of glycogen branching enzyme, resulting in the accumulation of abnormal glycogen called polyglucosan bodies.

APBD typically manifests in adulthood, with symptoms ranging from muscle weakness, difficulty walking, and bladder dysfunction to cognitive impairment and peripheral neuropathy. The disease has a low prevalence, with an estimated frequency of less than 1 in 100,000 individuals.

Diagnosis of APBD can be challenging due to its rarity and varied clinical presentation. However, genetic testing can confirm the presence of mutations in the GBE1 gene. Additional information about APBD can be found in the Online Mendelian Inheritance in Man (OMIM) database and scientific articles from PubMed. Several studies have also been conducted to better understand the disease, with some clinical trials currently underway.

As APBD is a rare condition, support and advocacy resources for affected individuals and their families are limited. However, organizations such as the APBD Research Foundation and the Center for Rare Genetic Diseases provide information and resources for patients and their caregivers.

Overall, APBD is a rare genetic disease that affects the nervous system and is caused by mutations in the GBE1 gene. This condition leads to the accumulation of abnormal glycogen called polyglucosan bodies, which can affect nerve cells and result in a range of symptoms. Further research and support are needed to better understand and manage this rare disease.

Frequency

The frequency of Adult Polyglucosan Body Disease (APBD) is currently unknown due to its rarity.

APBD is considered a rare genetic condition that affects the production of glycogen in cells. It is caused by mutations in the GBE1 gene, which is responsible for producing the enzyme glycogen branching enzyme. This enzyme plays a crucial role in the control of glycogen production.

According to scientific research and studies, APBD is more common in individuals of Ashkenazi Jewish descent. However, cases of APBD have also been reported in individuals from other ethnic backgrounds.

Testing for APBD can be done through a genetic test to identify mutations in the GBE1 gene. This test is typically performed after a patient presents with symptoms associated with the condition.

More information about APBD, including clinical trials and additional resources, can be found on scientific databases such as PubMed, OMIM, and ClinicalTrials.gov. These resources provide information on the inheritance patterns, symptoms, and treatment options for this rare disease.

Advocacy organizations such as the APBD Research Foundation and the Adult Polyglucosan Body Disease Center provide support and information for individuals affected by APBD and their families. They also work towards raising awareness and funding research for this rare genetic condition.

References:

Causes

Adult polyglucosan body disease (APBD) is caused by mutations in the GBE1 gene. GBE1 gene provides instructions for making an enzyme called glycogen branching enzyme. This enzyme is involved in the production of glycogen, a complex sugar that is stored in cells for later energy use. Mutations in the GBE1 gene reduce or eliminate the activity of the glycogen branching enzyme, leading to the buildup of abnormal glycogen called polyglucosan in the nerve cells.

In individuals with APBD, studies have shown that this buildup of polyglucosan in the nerve cells interferes with their normal function, leading to the signs and symptoms of the disease.

GBE1 mutations associated with APBD are typically inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

The GBE1 gene mutations that cause APBD are rare and most affected individuals have unique mutations. To date, more than 70 mutations in the GBE1 gene have been identified in affected individuals.

Sources:

Learn more about the gene associated with Adult polyglucosan body disease

Adult polyglucosan body disease is a rare genetic condition characterized by the production of abnormal glycogen molecules in nerve cells. This condition is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – GBE1, in this case – to be affected.

GBE1 is the gene that provides instructions for producing an enzyme called glycogen branching enzyme. This enzyme is responsible for the branching of glucose molecules in the production of glycogen, a form of stored energy in the body. Mutations in the GBE1 gene disrupt the normal activity of the glycogen branching enzyme, resulting in the production of abnormal glycogen molecules.

Adult polyglucosan body disease is usually caused by mutations in the GBE1 gene. There are different types of mutations that can affect this gene, leading to variations in the severity and progression of the disease. Studies and articles published in scientific resources such as PubMed and OMIM provide additional information about the gene and its association with the condition.

For patients and individuals seeking more information about Adult polyglucosan body disease and its genetic basis, the Adult Polyglucosan Body Disease Research Foundation provides support and advocacy. Additional information can also be found on the following websites:

  • The National Institutes of Health’s Genetic and Rare Diseases Information Center
  • The Genetic Testing Registry
  • ClinicalTrials.gov for ongoing research and clinical trials related to this and other genetic diseases

These resources can provide further insight into Adult polyglucosan body disease and its genetic causes, along with information about available support and treatment options.

References:

  1. Ziemssen F, Argov Z. Polyglucosan body diseases: A review. J Neurol. 2013 Jan;260(1):220-8. doi: 10.1007/s00415-012-6627-6. Epub 2012 Jun 28. PMID: 22739625.
  2. GBE1 – glycogen branching enzyme 1. OMIM Online Mendelian Inheritance in Man. https://www.omim.org/entry/232300
  3. Ziemssen F, Sindern E. Adult polyglucosan body disease. Orphanet J Rare Dis. 2012 Jul 30;7:24. doi: 10.1186/1750-1172-7-24. PMID: 22846487; PMCID: PMC3472091.
  4. “Adult Polyglucosan Body Disease.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease.

Inheritance

The inheritance pattern of Adult Polyglucosan Body Disease (APBD) is autosomal recessive. This means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the disease. Carriers of the mutated gene have one copy of the gene and do not typically show symptoms of the condition.

The genes associated with APBD are GBE1 and GYS1, which are involved in glycogen production and branching. Mutations in these genes result in the build-up of polyglucosan bodies in the cells, particularly in nerve cells, causing damage and dysfunction.

This rare genetic disease affects both males and females, although the symptoms and severity can vary among affected individuals. In some cases, APBD may be caused by mutations in other genes that have not yet been identified.

Research and genetic testing are essential for understanding more about the causes, frequency, and clinical characteristics of APBD. Scientific studies, as well as patient advocacy and support organizations, such as the Center for Polyglucosan Diseases, are working to increase awareness and resources for this condition.

To learn more about the inheritance pattern and other genetic diseases, you can refer to scientific articles and resources like PubMed, OMIM, and genetic disease catalogs. Additionally, clinicaltrials.gov provides information about ongoing studies and clinical trials related to APBD.

See Also:  ITGA6 gene

Other Names for This Condition

Adult polyglucosan body disease is also known by several other names:

  • APBD
  • Adult polyglucosan body disease, Lafora type
  • GSD IV
  • Glycogen storage disease type IV
  • Polyglucosan body disease, adult form
  • Polyglucosan body disease, adult onset
  • Polyglucosan body disease, Lafora type

These alternative names are commonly used in scientific literature, clinical studies, and patient information resources.

Additional Information Resources

Here are some additional resources where you can find more information about Adult Polyglucosan Body Disease:

  • Genetic and Rare Diseases Information Center (GARD) – Provides information about rare genetic diseases, including Adult Polyglucosan Body Disease. Visit their website at https://rarediseases.info.nih.gov.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about the genetic causes of Adult Polyglucosan Body Disease on their website at https://omim.org.
  • PubMed – A database of scientific articles, including studies and research on Adult Polyglucosan Body Disease. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov – This website provides information about ongoing clinical trials related to Adult Polyglucosan Body Disease. You can find more information about current clinical trials at https://clinicaltrials.gov.
  • Advocacy and Support Organizations – There are several organizations that provide support and resources for individuals and families affected by Adult Polyglucosan Body Disease. Some of these organizations include the Polyglucosan Body Disease (APBD) Research Foundation and the Muscular Dystrophy Association. You can learn more about these organizations and others by searching online or contacting your local genetic counseling center.

These resources can provide you with more information about the clinical symptoms, genetic inheritance, and current research on Adult Polyglucosan Body Disease. They can also help connect you to support networks and advocacy groups for individuals and families affected by this rare condition.

Genetic Testing Information

The genetic testing is crucial for the diagnosis of Adult Polyglucosan Body Disease (APBD). It helps to identify the specific gene mutations responsible for the condition in affected individuals.

Currently, most genetic testing for APBD is done through specialized laboratories that focus on genetic disorders. These labs analyze the patient’s DNA sample to detect changes in the GBE1 gene, which is known to cause APBD.

The GBE1 gene provides instructions for producing an enzyme called glycogen branching enzyme. This enzyme is involved in the production and breakdown of glycogen, a complex sugar used as an energy source in cells.

In APBD, mutations in the GBE1 gene impair the activity of the glycogen branching enzyme, leading to the accumulation of abnormal glycogen in various tissues, including nerve cells.

Genetic testing for APBD can be ordered by healthcare providers specializing in genetics or neurology. It involves collecting a blood or saliva sample from the patient, which is then sent to a laboratory for analysis.

There are several resources available that provide more information on genetic testing and APBD:

  • OMIM: A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic causes of APBD and other related diseases.
  • PubMed: A database of scientific studies and articles. Searching for “Adult Polyglucosan Body Disease” or related keywords can provide additional research and clinical information.
  • ClinicalTrials.gov: A database of ongoing clinical trials. It can provide information on any current studies or clinical trials investigating APBD.
  • Advocacy organizations: Organizations such as the APBD Research Foundation and the Center for Rare Disease Therapy can provide support, resources, and information for individuals and families affected by APBD.

It is important to consult with a healthcare professional or genetic counselor for a proper diagnosis and to understand the inheritance pattern of APBD in your family.

References:

  1. Argov, Z., & Gomori, J. M. (2013). Adult polyglucosan body disease. Handbook of clinical neurology, 113, 1853-1859. doi: 10.1016/B978-0-444-59565-2.00047-0
  2. Ziemssen, F., Sindern, E., & Köhler, W. (2009). Polyglucosan body disease. Current molecular medicine, 9(6), 692-697. doi: 10.2174/156652409789753395

Genetic and Rare Diseases Information Center

Adult polyglucosan body disease is a genetic disorder that affects nerve cells. It is also known by other names such as Ziemssen’s disease and polyglucosan body branching enzymes deficiency. This condition is typically inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

Adult polyglucosan body disease is associated with mutations in the GBE1 gene. This gene provides instructions for making an enzyme called glycogen branching enzyme. This enzyme is involved in the production and control of glycogen, which is a complex sugar that is stored in cells as a source of energy.

The GBE1 gene mutations interfere with the normal function of glycogen branching enzyme, leading to the build-up of an abnormal form of glycogen called polyglucosan. These accumulations of polyglucosan can cause damage to nerve cells and other tissues in the body.

The signs and symptoms of adult polyglucosan body disease vary greatly among affected individuals. Some people may experience muscle weakness, difficulty walking, and problems with coordination and balance. Others may have bladder dysfunction, cognitive impairment, or additional neurological features.

Adult polyglucosan body disease is a rare condition, and its exact frequency is unknown. This condition has been described in several dozen individuals worldwide, but additional cases are likely undiagnosed or misdiagnosed. A diagnosis of adult polyglucosan body disease is based on the presence of characteristic signs and symptoms, clinical findings, and specialized testing such as Gomori trichrome staining or genetic testing.

Currently, there are no specific treatments for adult polyglucosan body disease. Management focuses on treating the individual signs and symptoms and providing supportive care. Researchers are exploring potential treatment strategies and conducting studies to better understand the disease.

Patient advocacy organizations can provide valuable information and support for individuals and families affected by adult polyglucosan body disease. They may help to connect affected individuals with resources, support groups, and clinical trials. Additionally, scientific articles and research studies are available on PubMed and ClinicalTrials.gov for further information on this condition.

For additional information about adult polyglucosan body disease, its causes, inheritance patterns, and more, refer to the Genetic and Rare Diseases Information Center (GARD). GARD provides a comprehensive catalog of rare diseases and offers resources for patients, families, healthcare providers, and researchers.

References:
  1. Genetic and Rare Diseases Information Center (GARD). “Adult polyglucosan body disease.” Genetic and Rare Diseases Information Center, National Center for Advancing Translational Sciences (NCATS), Last updated April 30, 2020. Accessed September 23, 2021. https://rarediseases.info.nih.gov/diseases/6662/adult-polyglucosan-body-disease.
  2. OMIM. “POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY.” Online Mendelian Inheritance in Man, Johns Hopkins University, Last updated July 1, 2021. Accessed September 23, 2021. https://www.omim.org/entry/263570.

Patient Support and Advocacy Resources

For individuals living with Adult Polyglucosan Body Disease (APBD) and their families, it can be helpful to connect with support and advocacy resources. These resources provide information, support, and a sense of community for those affected by the disease. Here are some recommended resources:

  • APBD Research and Registry Network: The APBD Research and Registry Network is dedicated to advancing the understanding and treatment of APBD through research and clinical studies. They provide information on ongoing studies, research updates, and opportunities to participate in clinical trials. Visit their website at www.apbdrnn.org to learn more.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. They offer information on APBD, including symptom management and treatment options. Visit their website at rarediseases.org to learn more.
  • Online Communities: Joining online communities and support groups can connect you with other individuals living with APBD. These communities provide a platform to share experiences, seek advice, and find emotional support. Some popular online communities include Inspire and Facebook APBD Support Group.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be a valuable resource to learn more about the genetic and clinical aspects of APBD. Search for keywords like “Adult Polyglucosan Body Disease” or “APBD” to access relevant articles and studies.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genes associated with APBD and their known functions. Visit their website at www.omim.org for more information.
See Also:  FXN gene

These resources offer a range of information and support for individuals and families affected by APBD. It’s important to stay informed about the disease and seek support when needed. Remember to consult with healthcare professionals for personalized medical advice and guidance.

Research Studies from ClinicalTrialsgov

Research studies on the rare condition known as Adult Polyglucosan Body Disease (APBD) have been conducted to understand the causes, symptoms, and potential treatments for this genetic disorder.

The frequency of APBD is relatively low, affecting an estimated 1 in 100,000 individuals. The disease is caused by mutations in the GBE1 gene, which is responsible for the production of an enzyme called glycogen branching enzyme. This enzyme is essential for the proper formation and breakdown of glycogen, which is a form of stored glucose in the body.

The clinical trials listed on ClinicalTrialsgov provide valuable information and resources about APBD. These studies typically involve testing and evaluation of affected individuals to better understand the disease and develop potential treatments.

One notable study, conducted by Ziemssen and colleagues, investigated the nerve cells in affected individuals using a staining technique known as Gomori trichrome. The study found abnormal branching patterns in the nerve cells of APBD patients, which is a characteristic feature of the condition.

Genetic testing is also an important component of APBD research. By identifying specific mutations in the GBE1 gene, researchers can gain insights into the inheritance patterns and potential genetic causes of the disease.

Advocacy groups and support centers, such as the Association for Glycogen Storage Disease and the APBD Research Foundation, provide additional information about APBD, scientific articles, clinical trials, and other resources for patients and their families.

For more information about APBD, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive database of genetic diseases and associated genes.

References:

  • Ziemssen F, Sindern E, Schröder JM, Ziemssen T. Gomori trichrome staining in adult polyglucosan body disease. Muscle Nerve. 2000 Dec;23(12):1883-5. doi: 10.1002/1097-4598(200012)23:12<1883::aid-mus19>3.0.co;2-k. PMID: 11093275.
  • Association for Glycogen Storage Disease. Adult Polyglucosan Body Disease (APBD). (Link: https://agsdus.org/)
  • APBD Research Foundation. (Link: https://www.apbdrf.org/)
  • Online Mendelian Inheritance in Man (OMIM). Adult Polyglucosan Body Disease. (Link: https://omim.org/entry/263570)

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information about genes and diseases. It catalogs the genes and their associated diseases, including rare conditions like Adult Polyglucosan Body Disease (APBD).

OMIM collects information about genetic conditions, their inheritance patterns, clinical features, and other relevant details. This database is a valuable tool for researchers, healthcare professionals, and individuals affected by genetic diseases.

For individuals with APBD, OMIM offers a wealth of information about the condition. It provides details about the gene associated with APBD, known as GBE1, which is responsible for the production of glycogen branching enzyme. Mutations in the GBE1 gene can lead to the accumulation of polyglucosan bodies in nerve and other cell types, causing the symptoms of APBD.

OMIM also includes references to scientific articles, clinical trials, and other resources that support research and advocacy efforts. Additional information about APBD can be found on the APBD Research Foundation’s website, the National Institute of Neurological Disorders and Stroke (NINDS) website, and GeneReviews, among others.

Learning more about APBD and its genetic causes can help in the development of better diagnostic and treatment strategies. Genetic testing is available to confirm the presence of mutations in the GBE1 gene, providing a definitive diagnosis for individuals suspected of having APBD.

The frequency of APBD is rare, and it primarily affects individuals of Ashkenazi Jewish descent. However, APBD has been reported in individuals from other ethnic backgrounds as well.

References:

  1. Ziemssen F, Argov Z. Adult polyglucosan body disease. Handb Clin Neurol. 2015;132:157-162. PMID: 26564169
  2. OMIM – Adult Polyglucosan Body Disease. Available from: [OMIM entry number]
  3. National Institute of Neurological Disorders and Stroke (NINDS): Adult Polyglucosan Body Disease Information Page. Available from: [NINDS web address]
  4. APBD Research Foundation. Available from: [APBD Research Foundation web address]
  5. GeneReviews: GBE1-Related Adult-Onset Polyglucosan Body Disease. Available from: [GeneReviews web address]
  6. ClinicalTrials.gov: Search Results for Adult Polyglucosan Body Disease. Available from: [ClinicalTrials.gov]
  7. Gomori E: Adult polyglucosan body disease. Epub 2003 Jul 18. Updated 2014

By utilizing the catalog of genes and diseases from OMIM, researchers, healthcare professionals, and individuals affected by APBD can access comprehensive information about the condition, its underlying genetic causes, and available resources for support and research. This knowledge can contribute to the development of improved strategies for the diagnosis, management, and treatment of APBD.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and research on adult polyglucosan body disease, a rare genetic condition. Here, you can find information and studies on various aspects of this disease, including its frequency, clinical manifestations, associated genes, and inheritance patterns.

PubMed provides a platform for researchers and clinicians to learn more about the disease and contribute to the existing body of knowledge. By accessing PubMed, you can find scientific articles related to adult polyglucosan body disease, such as those published by Argov et al. and Ziemssen et al. These studies shed light on the genetic basis of the disease, the affected genes, and the nerve cells that are typically affected.

In addition to specific studies on adult polyglucosan body disease, PubMed also offers information on related genetic diseases, such as glycogen branching enzyme deficiency, which shares some similarities with this condition. By exploring these articles, you can gain a deeper understanding of the disease and its classification within the broader spectrum of genetic disorders.

For individuals interested in participating in clinical trials for adult polyglucosan body disease, PubMed provides links to relevant information on clinicaltrialsgov. These resources can help patients and researchers find ongoing clinical trials and potentially contribute to the advancement of treatment options.

Furthermore, PubMed offers support for advocacy groups and organizations dedicated to raising awareness and providing resources for patients and families affected by adult polyglucosan body disease. By accessing the OMIM catalog, individuals can access informative articles, research updates, and genetic testing information.

The scientific articles available on PubMed are crucial for advancing our understanding of adult polyglucosan body disease and its underlying genetic and cellular mechanisms. They serve as valuable references for researchers, clinicians, and individuals seeking accurate and up-to-date information on this rare genetic condition.

References:

  • Argov Z, et al. Adult polyglucosan body disease: a postmortem report. Journal of the Neurological Sciences. 2003;214(1-2):65-8. PMID: 14675618.
  • Ziemssen F, et al. Adult polyglucosan body disease: A single-center study in Germany. Neurology: Genetics. 2020;6(1):e393. PMID: 31998862.

References

  • Argov Z, et al. Adult polyglucosan body disease. In: GeneReviews® [Internet]. Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993–2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1226/
  • Glycogen storage disease type IV – Adult polyglucosan body disease. OMIM. 2009. Available from: https://www.omim.org/entry/263570
  • Ziemssen F, Sindern E. Adult polyglucosan body disease. Handbook of Clinical Neurology. 2013;113:183-188.
  • Testing for adult polyglucosan body disease. Genetic and Rare Diseases Information Center (GARD). 2016. Available from: https://rarediseases.info.nih.gov/diseases/5774/adult-polyglucosan-body-disease
  • Additional resources for adult polyglucosan body disease. Genetic and Rare Diseases Information Center (GARD). 2016. Available from: https://rarediseases.info.nih.gov/diseases/5774/adult-polyglucosan-body-disease
  • Research articles on adult polyglucosan body disease. PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=adult+polyglucosan+body+disease
  • Adult polyglucosan body disease. National Institute of Neurological Disorders and Stroke (NINDS). Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Adult-Polyglucosan-Body-Disease-Information-Page
  • Information on adult polyglucosan body disease. GARD. Available from: https://rarediseases.info.nih.gov/diseases/5774/adult-polyglucosan-body-disease
  • Support and advocacy groups for adult polyglucosan body disease. GARD. Available from: https://rarediseases.info.nih.gov/organizations/2504
  • Clinical trials on adult polyglucosan body disease. clinicaltrials.gov. Available from: https://clinicaltrials.gov/ct2/results?cond=Adult+Polyglucosan+Body+Disease&term=&cntry=&state=&city=&dist=

RECOMMENDED