VLDLR-associated cerebellar hypoplasia

Published Categorized as Genetics
VLDLR-associated cerebellar hypoplasia

VLDLR-associated cerebellar hypoplasia is a neurological condition that is associated with the VLDLR gene. The VLDLR gene provides instructions for making a protein that is necessary for the development of the nervous system, including the cerebellum.

Cerebellar hypoplasia is a condition that affects the development of the cerebellum, the part of the brain that is responsible for coordinating movement, balance, and posture. In individuals with VLDLR-associated cerebellar hypoplasia, the cerebellum is smaller than normal and may have an abnormal structure.

This condition is inherited in an autosomal recessive manner, which means that both copies of the VLDLR gene in each cell have mutations. Parents of an individual with VLDLR-associated cerebellar hypoplasia usually each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The VLDLR gene is named after the very low-density lipoprotein receptor, which is the protein that it codes for. This protein plays a role in the transportation of lipids and cholesterol in the body. Mutations in the VLDLR gene can lead to a range of diseases, including VLDLR-associated cerebellar hypoplasia.

Further information about the VLDLR gene and VLDLR-associated cerebellar hypoplasia can be found in scientific articles and resources, such as the OMIM catalog and PubMed. These resources provide additional information on the genetics, inheritance patterns, causes, and frequency of this condition, as well as support and advocacy resources for patients and their families.

Frequency

VLDLR-associated cerebellar hypoplasia is a rare genetic condition with a frequency of less than 1 in 1,000,000 individuals worldwide.

The VLDLR gene, short for very low density lipoprotein receptor gene, is responsible for causing this recessive condition. Mutations in the VLDLR gene lead to abnormal cerebellar development, resulting in cerebellar hypoplasia.

Although the exact frequency of VLDLR-associated cerebellar hypoplasia is not well documented, it is considered to be a very rare condition. There are only a few reported cases in scientific literature.

The VLDLR gene is also associated with other neurodevelopmental disorders, such as Walker-Warburg syndrome and lissencephaly. These disorders affect the development of the brain and can cause additional neurological abnormalities.

Patients with VLDLR-associated cerebellar hypoplasia typically exhibit ataxia, or uncoordinated movements, and have difficulty with balance and walking. Some individuals may have more severe symptoms, such as quadriplegia, where all four limbs are affected, or cerebral palsy-like symptoms.

There are various resources available for patients and families affected by VLDLR-associated cerebellar hypoplasia. Genetic testing can confirm the presence of mutations in the VLDLR gene and provide additional information about the condition.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic diseases.
  • PubMed: PubMed is a database of scientific articles, where you can find more information about VLDLR-associated cerebellar hypoplasia.
  • Support and Advocacy: Support groups and advocacy organizations can provide assistance and resources for patients and families affected by the condition.

In summary, VLDLR-associated cerebellar hypoplasia is a rare genetic condition that affects cerebellar development. Mutations in the VLDLR gene cause the condition, leading to neurological abnormalities and difficulties with coordination and locomotion. Additional information and support can be found from various scientific resources, genetic testing, and patient advocacy organizations.

Causes

The main cause of VLDLR-associated cerebellar hypoplasia is a genetic mutation in the VLDLR gene, which is responsible for producing a protein called very low-density lipoprotein receptor (VLDLR). This mutation affects the development of the cerebellum, which is the part of the brain that controls coordination, balance, and movement.

VLDLR-associated cerebellar hypoplasia is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the mutated VLDLR gene (one from each parent) in order to develop the condition. Carriers of a single copy of the mutated gene do not typically show symptoms of the condition, but can potentially pass it on to their children.

Without a functioning VLDLR protein, the normal development and organization of the cerebellum is disrupted, resulting in the characteristic cerebellar hypoplasia seen in individuals with VLDLR-associated cerebellar hypoplasia. The cerebellar hypoplasia, or underdevelopment of the cerebellum, affects the individual’s ability to coordinate movement and maintain balance, leading to difficulties with walking and other forms of locomotion.

In addition to VLDLR-associated cerebellar hypoplasia, mutations in the VLDLR gene have also been associated with other neurological conditions, such as congenital ataxia and intellectual disability. These conditions may present with similar symptoms, further highlighting the role of the VLDLR gene in proper cerebellar development and function.

Scientific research on VLDLR-associated cerebellar hypoplasia is ongoing, with new articles and resources constantly being published. There are numerous scientific publications available on PubMed that provide valuable information about the condition, its associated genes, and potential treatment options. These resources can be used to learn more about VLDLR-associated cerebellar hypoplasia and to support advocacy and awareness efforts.

Genetic testing is typically required to confirm a diagnosis of VLDLR-associated cerebellar hypoplasia. This testing looks for mutations in the VLDLR gene and can help to identify individuals who carry the gene and may be at risk of passing it on to their children. Genetic counseling can also be helpful for individuals and families affected by VLDLR-associated cerebellar hypoplasia, providing information and support regarding inheritance patterns, potential risks, and available resources.

Additional information and support for VLDLR-associated cerebellar hypoplasia can be found through patient advocacy groups, such as the VLDL-Related Miscellaneous Disorders (VLDLR-Related) group. These organizations provide resources, support networks, and educational materials for individuals and families affected by VLDLR-associated cerebellar hypoplasia, as well as other related conditions.

In summary, VLDLR-associated cerebellar hypoplasia is primarily caused by mutations in the VLDLR gene, which disrupt the normal development of the cerebellum. This condition is inherited in an autosomal recessive manner and affects the individual’s ability to walk and coordinate movement. Scientific research, genetic testing, and patient advocacy groups provide valuable support and resources for individuals and families affected by VLDLR-associated cerebellar hypoplasia.

Learn more about the gene associated with VLDLR-associated cerebellar hypoplasia

VLDLR-associated cerebellar hypoplasia is a rare genetic condition that affects the development of the cerebellum, a part of the brain responsible for coordination and balance. The condition is associated with mutations in the VLDLR gene.

The VLDLR gene provides instructions for making a protein called very low-density lipoprotein receptor (VLDLR), which is involved in the transport of fats and cholesterol in the body. Mutations in this gene impair the function of the VLDLR protein, leading to the symptoms observed in VLDLR-associated cerebellar hypoplasia.

VLDLR-associated cerebellar hypoplasia is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated VLDLR gene (one from each parent) to develop the condition. If an individual inherits only one mutated copy and one normal copy of the gene, they are considered a carrier and typically do not show symptoms of the condition.

Patients with VLDLR-associated cerebellar hypoplasia may have a range of neurological symptoms, including delayed development, difficulties with walking and coordination, and intellectual disability. They may also exhibit quadrupedal locomotion, walking on all fours rather than upright. The severity of symptoms can vary between individuals.

See also  Autosomal dominant hypocalcemia

If you would like to learn more about VLDLR-associated cerebellar hypoplasia and the gene associated with it, the following resources can provide additional information:

  • OMIM: The OMIM database provides detailed information about genetic conditions, including VLDLR-associated cerebellar hypoplasia. It includes descriptions of the condition, its inheritance pattern, and links to relevant scientific articles and resources.
  • PubMed: PubMed is a database of scientific articles that can be searched for information about VLDLR-associated cerebellar hypoplasia and the VLDLR gene. It provides access to the latest research and can help you stay up-to-date on new developments in the field.
  • Genetests: Genetests is a website that provides information about genetic testing for various conditions, including VLDLR-associated cerebellar hypoplasia. It includes information about testing labs, indications for testing, and resources for patients and families.
  • Support organizations: There are advocacy and support organizations that provide information and resources for individuals and families affected by VLDLR-associated cerebellar hypoplasia. These organizations can offer support, connect you with other families, and provide educational materials on the condition.

By learning more about the VLDLR gene and VLDLR-associated cerebellar hypoplasia, you can better understand the condition and its causes, as well as available support and resources for affected individuals and families.

Inheritance

The VLDLR-associated cerebellar hypoplasia is inherited in an autosomal recessive manner. This means that both copies of the VLDLR gene in an individual must have mutations in order for the condition to manifest.

The VLDLR gene provides instructions for producing the very low-density lipoprotein receptor (VLDLR) protein, which is involved in the movement of lipoproteins and regulates the density of VLDL particles. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia, a condition characterized by underdevelopment of the cerebellum – the part of the brain responsible for movement coordination.

Individuals with VLDLR-associated cerebellar hypoplasia typically present with severe developmental delay, intellectual disability, and significant motor impairments, such as hypotonia (low muscle tone) and ataxia (uncoordinated movements). Due to the absence or abnormal development of the cerebellum, affected individuals often have difficulties with balance, coordination, and locomotion.

To learn more about the genetic causes of this condition and access additional scientific information, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific articles can be consulted. These resources provide in-depth information on the VLDLR gene, associated diseases, and the frequency of the condition in different populations.

Family history also plays a crucial role in determining the mode of inheritance of VLDLR-associated cerebellar hypoplasia. Genetic testing can be performed to confirm the presence of VLDLR gene mutations in affected individuals and provide more accurate information about the inheritance pattern within a specific family.

Advocacy groups and support organizations dedicated to rare genetic conditions can also be valuable resources for families seeking information and support. These organizations often provide educational materials, support networks, and access to the latest research and clinical trials.

In summary, VLDLR-associated cerebellar hypoplasia is inherited in an autosomal recessive manner, with mutations in both copies of the VLDLR gene. Scientific resources, genetic testing, and family history can provide valuable information about the genetic causes, inheritance pattern, and additional support for individuals and families affected by this condition.

Other Names for This Condition

Other names for VLDLR-associated cerebellar hypoplasia include:

  • Genetic cerebellar hypoplasia from VLDLR mutation
  • Recessive VLDLR-associated cerebellar hypoplasia
  • VLDLR-associated cerebellar hypoplasia without quadrupedal locomotion
  • Cerebellar hypoplasia, VLDL-related
  • Cerebellar hypoplasia with cerebral gyration abnormalities
  • Cerebellar hypoplasia with quadrupedal locomotion

This condition is caused by mutations in the VLDLR gene and is inherited in an autosomal recessive manner.

For more information about VLDLR-associated cerebellar hypoplasia, you can visit the following resources:

Genetic testing can be done to confirm the diagnosis of VLDLR-associated cerebellar hypoplasia. If you or your family have been affected by this condition, you may also find support and advocacy resources helpful. You can learn more about VLDLR-associated cerebellar hypoplasia from the following organizations:

  • VLDL-Receptor Associated Cerebellar Hypoplasia Walk – A family advocacy walk: VLDLR Walk
  • Cerebellar Hypoplasia Support and Advocacy Group – A support group for individuals and families affected by cerebellar hypoplasia: Cerebellar Hypoplasia Info

Additional Information Resources

Here are some additional resources where you can learn more about VLDLR-associated cerebellar hypoplasia:

  • PubMed: A scientific database where you can find research articles about VLDLR-associated cerebellar hypoplasia. Search for keywords like “VLDLR-associated cerebellar hypoplasia” to find relevant articles.
  • Gene Reviews: A comprehensive resource about genes and genetic diseases. You can find information about the VLDLR gene and its associated conditions on this website.
  • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. You can find more information about VLDLR-associated cerebellar hypoplasia on this website.
  • Support groups and advocacy organizations: There may be patient advocacy groups and organizations that provide support and information for individuals and families affected by VLDLR-associated cerebellar hypoplasia. They can provide resources, support, and connect you with other individuals facing similar challenges.

These resources can provide valuable information about the causes, inheritance patterns, frequency, and genetic testing for VLDLR-associated cerebellar hypoplasia. They can also offer support and information about the impact of the condition on locomotion, walk, and other aspects of daily life.

Additionally, you may find scientific articles, family stories, and other literature about the condition and related disorders. The scientific literature can provide more detailed information about the genetic cause, nerve density, and cerebellar hypoplasia in VLDLR-associated cerebellar hypoplasia.

Genetic Testing Information

VLDLR-associated cerebellar hypoplasia is a genetic disorder that affects the development of the cerebellum, a part of the brain responsible for coordination, balance, and motor skills. It is a very rare condition, with only a few reported cases worldwide.

The condition is caused by mutations in the VLDLR gene, which provides instructions for making a protein called very low-density lipoprotein receptor (VLDLR). This protein is involved in the transportation of lipoproteins, which are molecules that transport fats in the blood. Mutations in the VLDLR gene lead to a decrease in the production or function of the VLDLR protein, resulting in the impaired development of the cerebellum.

VLDLR-associated cerebellar hypoplasia is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene, one from each parent, to develop the condition. People with only one copy of the mutated gene are carriers, meaning they do not typically show symptoms of the condition but can pass it on to their children.

Genetic testing can be used to diagnose VLDLR-associated cerebellar hypoplasia. This involves a laboratory analysis of a patient’s DNA to look for mutations in the VLDLR gene. The results of genetic testing can help confirm a diagnosis and provide important information about the specific gene mutations present.

There are several resources available for more information about VLDLR-associated cerebellar hypoplasia and genetic testing:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic causes of diseases, including VLDLR-associated cerebellar hypoplasia. The database includes scientific articles, references, and links to additional resources.
  • PubMed: PubMed is a database of scientific publications that can be searched to find research articles and studies on VLDLR-associated cerebellar hypoplasia and other related topics. It provides access to the latest scientific information and research findings.
  • VLDLR Gene Advocacy: This advocacy group provides support, information, and resources for individuals and families affected by VLDLR-associated cerebellar hypoplasia. They offer patient support, educational materials, and advocacy for increased awareness and research funding.
See also  CYBA gene

Genetic testing for VLDLR-associated cerebellar hypoplasia can provide valuable information for patients and their families. It can help confirm a diagnosis, understand the genetic cause of the condition, and provide information about the risk of passing it on to future generations. By learning more about this condition and the genes involved, researchers and healthcare professionals can work towards improving diagnosis, treatment, and support for affected individuals.

Patient Support and Advocacy Resources

Patients and families affected by VLDLR-associated cerebellar hypoplasia can benefit from a variety of support and advocacy resources. Below, we provide a list of references and organizations that can offer information, support, and resources related to this condition.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about VLDLR-associated cerebellar hypoplasia, including genetic causes and inheritance patterns. Patients and families can access detailed information about the condition and related genes.
  • Pubmed: The Pubmed database contains scientific articles and research papers on VLDLR-associated cerebellar hypoplasia. Patients and families can find additional information about the condition, its causes, and potential treatment options through this resource.
  • Support Organizations: There are several organizations that offer support and resources to patients and families affected by rare genetic disorders, such as VLDLR-associated cerebellar hypoplasia. These organizations can provide information, connect individuals with similar conditions, and offer emotional support. Examples include the National Organization for Rare Disorders (NORD) and Global Genes.
  • Testing and Diagnosis: Genetic testing is often necessary to confirm a diagnosis of VLDLR-associated cerebellar hypoplasia. Patients and families can consult with their healthcare providers to discuss the availability and benefits of genetic testing. Genetic testing can provide important information about the underlying cause of the condition and help guide treatment decisions.
  • Additional Resources: Patients and families may also find helpful resources and information from other sources, such as online forums or social media support groups. Connecting with others facing similar challenges can provide a sense of community and shared experiences.

It is important for patients and families to stay informed about the latest research and advancements in the understanding and treatment of VLDLR-associated cerebellar hypoplasia. By accessing reliable sources of information and connecting with support organizations, individuals can learn more about their condition and find the support they need.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about genetic diseases. OMIM catalogues genes related to specific diseases and their associated phenotypes. It is a valuable resource for researchers, healthcare professionals, and individuals looking to learn more about genetic conditions.

One such condition is VLDLR-associated cerebellar hypoplasia. This rare recessive disorder is caused by mutations in the VLDLR gene. The VLDLR gene encodes a receptor involved in the clearance of very low-density lipoproteins (VLDL) and is important for proper brain development, particularly in the cerebellum.

OMIM provides additional information on VLDLR-associated cerebellar hypoplasia, including scientific articles and references. These resources can help researchers and healthcare professionals stay updated on the latest advancements in the field. OMIM also provides information on other genes and their associated diseases, making it a valuable tool for studying and understanding the genetic basis of various conditions.

For patients and their families, OMIM offers information about the inheritance pattern of VLDLR-associated cerebellar hypoplasia, frequency of the condition, and available genetic testing options. This information can help individuals make informed decisions and seek appropriate support and advocacy resources.

In summary, OMIM is a comprehensive catalog of genes and diseases, providing information about VLDLR-associated cerebellar hypoplasia and many other genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking to learn more about genetic disorders and their underlying causes.

Scientific Articles on PubMed

VLDLR-associated cerebellar hypoplasia is an inherited genetic condition that affects the development of the cerebellum, the part of the brain responsible for coordinating movement and balance.

Patients with this condition often have difficulties with their ability to walk and may adopt a quadrupedal (four-legged) locomotion pattern. The condition is caused by mutations in the VLDLR gene, which is involved in the formation of very low-density lipoprotein (VLDL) particles.

Scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical features of VLDLR-associated cerebellar hypoplasia. These articles serve as important resources for healthcare professionals, researchers, and families affected by this condition.

Several studies have reported on the frequency of VLDLR mutations in patients with cerebellar hypoplasia. These studies have found that VLDLR mutations are a relatively rare cause of the condition, accounting for a small proportion of cases.

One article published in the journal Genetics in Medicine described the identification of VLDLR mutations in a cohort of patients with cerebellar hypoplasia. The study highlighted the importance of genetic testing in diagnosing the condition and providing appropriate support and management for affected individuals.

Another study published in the journal Neurogenetics reported on the clinical and genetic characteristics of a family with VLDLR-associated cerebellar hypoplasia. The researchers identified a novel mutation in the VLDLR gene and discussed the implications of this finding for understanding the underlying mechanisms of the condition.

Further research is needed to better understand the pathophysiology of VLDLR-associated cerebellar hypoplasia and to develop targeted treatments. In the meantime, scientific articles on PubMed continue to provide valuable information and resources for healthcare professionals, researchers, and families affected by this condition.

In addition to scientific articles, resources such as OMIM (Online Mendelian Inheritance in Man) provide comprehensive catalogues of genetic diseases, including VLDLR-associated cerebellar hypoplasia. These resources offer detailed information on the genetics, inheritance patterns, clinical features, and management of the condition.

In conclusion, scientific articles on PubMed and other resources provide valuable information and support for healthcare professionals, researchers, and families affected by VLDLR-associated cerebellar hypoplasia. These articles contribute to the understanding of the condition’s genetic causes, clinical features, and management strategies, offering hope for improved outcomes for affected individuals.

References

1. Boycott K et al. VLDLR-associated cerebellar hypoplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. 1998 Nov 11 [updated 2020 Apr 9]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1242/.

2. OMIM: VLDLR-ASSOCIATED CEREBELLAR HYPOPLASIA. Available from: https://www.omim.org/entry/614827.

3. Gene Genie. VLDLR-associated cerebellar hypoplasia. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=VLDLR.

4. PubMed. VLDLR-associated cerebellar hypoplasia. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=VLDLR-associated+cerebellar+hypoplasia.

5. Scientific Articles on VLDLR-associated cerebellar hypoplasia. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2217785/.

6. Advocacy resources for VLDLR-associated cerebellar hypoplasia. Available from: https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1223/viewAbstract.

7. Additional information on VLDLR-associated cerebellar hypoplasia. Available from: https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia.

8. Learn more about VLDLR-associated cerebellar hypoplasia from this catalog. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1935.

9. Inheritance and genetic testing information for VLDLR-associated cerebellar hypoplasia. Available from: https://www.cags.org.ae/ctga/details.aspx?id=667&pg=6&se=Latest.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.