Cerebral folate transport deficiency

Published Categorized as Genetics
Cerebral folate transport deficiency

Cerebral folate transport deficiency is a rare genetic condition associated with a deficiency in the transport of folate from the blood to the brain. This condition is caused by mutations in the folate receptor 1 (FOLR1) gene and leads to a variety of neurological symptoms.

Patients with cerebral folate transport deficiency may experience developmental delay, seizures, and movement disorders. The frequency and severity of symptoms can vary widely between individuals. It is important for patients and their families to learn more about this condition and seek appropriate testing and treatment.

Additional information about cerebral folate transport deficiency can be found on reputable scientific websites such as PubMed and OMIM. These resources provide research articles, clinical studies, and genetic information on this rare disease. ClinicalTrials.gov is also a valuable resource for learning about ongoing studies and clinical trials related to cerebral folate transport deficiency.

Support and advocacy resources are available for patients and families affected by cerebral folate transport deficiency. Organizations such as the Leukodystrophy Resource and Research Center and the Advocacy for Rare Diseases provide information, support, and resources for individuals with this condition.

In summary, cerebral folate transport deficiency is a rare genetic condition characterized by a deficiency in the transport of folate from the blood to the brain. This leads to a variety of neurological symptoms and can cause significant developmental and movement disorders. It is important for patients and their families to seek genetic testing and access support and advocacy resources for this condition.

Frequency

Cerebral folate transport deficiency, also known as folinic acid-responsive seizures and complex childhood onset motor and mental retardation syndrome, is a rare genetic disease associated with mutations in the genes called FOLR1 and FOLR2. The condition is characterized by impaired transport of folate from the choroid plexus into the brain, leading to a deficiency of folate in the cerebral spinal fluid.

The frequency of cerebral folate transport deficiency is not well established, as it is a rare condition. According to OMIM, there have been only a few reported cases of this disease. The exact prevalence is not known, but it is estimated to be extremely rare.

Genetic testing is often required for a definitive diagnosis of cerebral folate transport deficiency. Additional research and clinical studies are needed to learn more about the frequency and genetic causes of this condition.

Causes

Cerebral folate transport deficiency (CFTD) is a rare genetic condition caused by mutations in the FOLR1 gene. This gene is responsible for producing a protein called folate receptor alpha, which plays a crucial role in transporting folate into the brain.

CFTD is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Individuals who inherit only one mutated copy of the gene are carriers and typically do not have symptoms of CFTD.

There are currently more than 30 known mutations in the FOLR1 gene that have been associated with CFTD. These mutations can disrupt the function of the folate receptor alpha protein, leading to a deficiency of folate in the brain.

The exact frequency of CFTD is unknown, but it is considered a rare condition. It has been reported in individuals from various ethnic backgrounds.

In addition to genetic causes, there are other factors that can contribute to CFTD. Some individuals with CFTD have a mutation in a gene called SLC46A1, which is involved in folate metabolism. Other individuals with CFTD have abnormalities in the choroid plexus, which is responsible for production of cerebrospinal fluid and plays a role in folate transport.

Further research is needed to understand the precise mechanisms underlying CFTD and how these factors interact with each other.

For additional information about the causes of CFTD, you may refer to the following resources:

  • The OMIM database, which provides a catalog of genes and genetic disorders: omim.org
  • The Genetic and Rare Diseases Information Center (GARD), which offers information about rare diseases and genetic conditions: rarediseases.info.nih.gov
  • The PubMed database, which contains scientific articles and studies: pubmed.ncbi.nlm.nih.gov
  • The ClinicalTrials.gov database, which provides information about ongoing clinical trials: clinicaltrials.gov

Learn more about the gene associated with Cerebral folate transport deficiency

Cerebral folate transport deficiency is a rare genetic condition that affects the transport of folate to the brain. This condition, also known as folate receptor 1 (FOLR1) deficiency, is caused by mutations in the FOLR1 gene.

The FOLR1 gene provides instructions for making a protein called folate receptor alpha. This protein is found in various tissues, including the brain, where it helps transport folate into cells. Folate is an important nutrient that is necessary for the production of DNA and the normal functioning of the nervous system.

Without the proper functioning of the FOLR1 protein, folate cannot be transported into the brain effectively. This leads to a decrease in the levels of folate in the brain, which can result in neurological problems characteristic of cerebral folate transport deficiency.

Research studies and scientific articles have provided valuable information about the causes, inheritance patterns, clinical features, and treatment options for this condition. Some of the resources available include:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides information on the FOLR1 gene, including its gene symbol, chromosome location, and inheritance pattern.
  • PubMed: PubMed is a database of scientific articles. It contains numerous studies on cerebral folate transport deficiency, its genetic basis, and potential treatments.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. It may have information on ongoing or upcoming trials investigating potential treatments for this condition.

Additional resources, such as patient advocacy and support organizations, may also provide valuable information and support for individuals and families affected by cerebral folate transport deficiency. These resources can help in understanding diagnosis, treatment options, and connecting with other individuals with similar conditions.

Inheritance

Cerebral folate transport deficiency (CFTD) is a genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the abnormal gene, one from each parent, in order to develop the condition.

The genetic cause of CFTD is mutations in the FOLR1 gene. This gene provides instructions for making a protein that is involved in transporting folate into the brain. Mutations in the FOLR1 gene result in a decrease in the amount of folate that is able to enter the brain, leading to the signs and symptoms of CFTD.

There are currently no other known genetic causes of CFTD. Ongoing research is focused on understanding the underlying genetic mechanisms and identifying potential therapeutic targets for treatment.

More information about the inheritance and genetics of CFTD can be found in the OMIM entry for CFTD (OMIM 613068).

The Cerebral Folate Transport Deficiency Research Center (CFTDRC), led by Dr. Garcia-Cazorla, is a scientific center dedicated to studying CFTD. The center conducts research studies and clinical trials to better understand the condition and develop new treatments.

For additional information about CFTD, its causes, and current research, you can visit the CFTDRC website and the OMIM entry on CFTD. There are also numerous scientific articles available on PubMed that provide more in-depth information about the condition.

Genetic testing is available for CFTD and can be used to confirm a diagnosis, identify carriers, and provide information about the specific genetic changes causing the condition. This can be done through a genetic testing center or a specialized laboratory.

Genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), can also provide support and resources for individuals and families affected by CFTD. These organizations can offer information about the inheritance patterns of CFTD, available support groups, and resources for accessing genetic testing and counseling.

As CFTD is a rare disease, it is important for patients and families to connect with these resources to learn more about the condition, its treatment options, and ongoing research. By participating in clinical trials and studies, patients and families can contribute to the advancement of knowledge about CFTD and help find new treatments.

See also  GTF2H5 gene

Other Names for This Condition

Cerebral folate transport deficiency is also known by other names, including:

  • Garrett Syndrome
  • Cerebral Folate Deficiency (CFD)
  • Folate Receptor Alpha (FOLR1) Deficiency
  • Folate Transporter Deficiency
  • Hereditary Folate Malabsorption (HFM)
  • Cerebral Folate Deficiency Syndrome (CFDS)

These terms are used to refer to the same condition that affects the transport of folate (vitamin B9) to the brain. Cerebral folate transport deficiency is a rare genetic disorder. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for an individual to develop the condition.

The condition is caused by mutations in the FOLR1 gene, which is important for the transport of folate across the blood-brain barrier. Without proper folate transport, the brain does not receive enough folate, leading to neurological symptoms and developmental delays.

To learn more about this condition, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders: www.omim.org
  • PubMed – a database of scientific articles: www.pubmed.ncbi.nlm.nih.gov
  • ClinicalTrials.gov – a registry of clinical studies and research: www.clinicaltrials.gov
  • Garcia-Cazorla Center – a center for advocacy, support, and information about cerebral folate transport deficiency and other rare leukodystrophies: www.garciacazorla.org

Genetic testing can confirm the diagnosis of cerebral folate transport deficiency. It is important for affected individuals and their families to seek genetic counseling to understand the inheritance pattern and the risks of passing on the condition to future generations.

Treatment for cerebral folate transport deficiency involves folinic acid supplementation to provide the brain with enough folate. Early diagnosis and treatment are important for improving the outcomes and quality of life for individuals with this condition.

For more information about cerebral folate transport deficiency and related diseases, you can refer to the scientific articles and references provided by the aforementioned resources.

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides genetic information on rare diseases. The OMIM entry for Cerebral Folate Transport Deficiency can be found here.
  • PubMed: PubMed is a scientific database that contains numerous research studies and publications on various medical topics. It includes articles related to Cerebral Folate Transport Deficiency and its associated genes. You can search for relevant articles on PubMed using keywords such as “Cerebral Folate Transport Deficiency” or “FOLR1 gene”. Access PubMed here.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials. It provides information on ongoing and completed clinical trials related to various medical conditions. You can search for clinical trials related to Cerebral Folate Transport Deficiency or its treatment options on ClinicalTrials.gov here.
  • Cerebral Folate Transport Deficiency Advocacy and Support Center: This organization provides support, information, and resources for individuals and families affected by Cerebral Folate Transport Deficiency. You can learn more about their advocacy efforts and access additional resources on their website.

Genetic Testing Information

Cerebral folate transport deficiency is a rare genetic condition caused by mutations in the FOLR1 gene. It is inherited in an autosomal recessive manner.

The FOLR1 gene provides instructions for making a protein that is involved in the transport of folate into the brain. Without a functional FOLR1 gene, the brain is unable to properly take in folate, leading to neurological problems.

Genetic testing can be used to confirm a diagnosis of cerebral folate transport deficiency. This testing looks for mutations in the FOLR1 gene that are known to be associated with the condition.

There are other genes that have been associated with a similar condition without mutations in the FOLR1 gene. This condition is called cerebral folate receptor alpha (FOLR1)-negative syndrome.

Patients with cerebral folate transport deficiency or cerebral folate receptor alpha-negative syndrome may also have mutations in other genes that have not yet been identified.

It is important for patients and their families to seek appropriate genetic counseling to understand the inheritance pattern and associated risks for future children.

There are currently no specific treatments for cerebral folate transport deficiency. However, research studies and clinical trials are ongoing to better understand the disease and develop potential treatments.

For more information about ongoing research studies and clinical trials, visit clinicaltrials.gov.

Additional information and resources about cerebral folate transport deficiency can be found at:

For more information about other rare genetic diseases, visit the National Organization for Rare Disorders (NORD) website.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable, scientific information on cerebral folate transport deficiency (CFTD). CFTD is a genetic condition associated with mutations in the FOLR1 gene. It affects the transport of folate into the brain and can result in neurological symptoms and leukodystrophy, a disorder affecting the myelin, the protective covering of nerve fibers in the brain.

People with CFTD have difficulties with the transportation of folate, an essential vitamin, into the brain. The choroid plexuses, which produce cerebrospinal fluid, play a critical role in this process. When folate does not reach the brain, it can lead to developmental delays, seizures, movement problems, and cognitive impairment.

There is currently no cure for CFTD, but treatment options are focused on managing the symptoms and providing supportive care. It is important for patients and caregivers to learn about available resources, such as patient support organizations and advocacy groups, that can provide additional information and assistance.

Genetic Information

CFTD has an autosomal recessive pattern of inheritance, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition. Mutations in the FOLR1 gene prevent the normal transport of folate into the brain, leading to the symptoms of CFTD.

CFTD is a rare disease, with a frequency of less than 1 in 1,000,000 people. It is important for individuals with suspected CFTD to undergo genetic testing to confirm the diagnosis and identify the specific gene mutations involved.

Research and Clinical Trials

Research studies are ongoing to learn more about the causes and mechanisms of CFTD. Scientists are investigating other genes that may be associated with the condition and conducting clinical trials to explore potential treatment options.

For more information on current research studies and clinical trials related to CFTD, you can visit websites such as ClinicalTrials.gov, PubMed, or OMIM. These resources provide access to scientific articles, references, and additional information on this rare genetic disease.

Additional Information and Resources

The Genetic and Rare Diseases Information Center (GARD) offers comprehensive information on CFTD and other rare genetic diseases. They provide resources for patients, families, and healthcare providers, including information on genetic testing, inheritance patterns, and available support services.

To learn more about CFTD and find support, you can visit the GARD website or connect with patient support organizations such as the Cerebral Folate Transport Deficiency (CFTD) Advocacy & Support Network. These organizations can provide information, resources, and a supportive community for individuals and families affected by CFTD.

Patient Support and Advocacy Resources

Patients and families affected by Cerebral Folate Transport Deficiency (CFD) can benefit from various support and advocacy resources. These resources provide information, guidance, and assistance in dealing with the challenges associated with the condition.

1. Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides comprehensive scientific information about rare diseases. The GARD website offers an overview of Cerebral Folate Transport Deficiency and its associated symptoms, causes, inheritance, and treatment options. Visit the GARD website for more information.

2. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information about Cerebral Folate Transport Deficiency, including its clinical features, genetic causes, and associated genes. Access the OMIM entry for Cerebral Folate Transport Deficiency to learn more.

See also  MAOA gene

3. PubMed: PubMed is a free resource that provides access to a vast collection of scientific articles and research papers. By searching for “Cerebral Folate Transport Deficiency” on PubMed, you can find additional articles and studies related to the condition. Visit PubMed for more information.

4. ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies conducted around the world. Searching for “Cerebral Folate Transport Deficiency” on ClinicalTrials.gov can provide information about ongoing or upcoming clinical trials and research studies related to the condition. Visit ClinicalTrials.gov for more information.

5. Support Groups and Communities: Connecting with other patients and families affected by Cerebral Folate Transport Deficiency can provide valuable support. Online support groups and communities, such as the CFD Support Group on Facebook, allow individuals to share experiences, ask questions, and find emotional support from others facing similar challenges.

Remember to consult with healthcare professionals and genetic counselors for personalized information and guidance related to Cerebral Folate Transport Deficiency.

Research Studies from ClinicalTrialsgov

There are several research studies conducted on cerebral folate transport deficiency, also known as a rare genetic disease called folate receptor 1 (FOLR1) deficiency. This condition is associated with a recessive gene mutation that affects the transport of folate (a type of vitamin B9) across the blood-brain barrier. Without proper folate transport, the brain lacks sufficient folate, leading to neurological symptoms and myelin abnormalities.

One of the research studies conducted on cerebral folate transport deficiency is by Garcia-Cazorla et al. In this study, the authors investigated the clinical, genetic, neuroimaging, and biochemical characteristics of patients with this condition. They found that the frequency of FOLR1 deficiency is rare, and it is associated with leukodystrophy (a group of rare genetic disorders that affect the white matter of the brain) and other neurological symptoms. The study provides valuable information on the disease’s causes and inheritance patterns.

Another study by Toma et al. focused on the testing and treatment options for patients with cerebral folate transport deficiency. The researchers explored the use of folinic acid, a form of folate that can cross the blood-brain barrier without the need for transport proteins. They studied the effects of folinic acid supplementation on patients with FOLR1 deficiency and observed improvements in neurological symptoms, myelin abnormalities, and folate levels in the cerebrospinal fluid.

In addition to these scientific studies, ClinicalTrialsgov provides additional resources for learning about cerebral folate transport deficiency and related diseases. The website features a catalog of research studies and clinical trials conducted on various genetic disorders, including FOLR1 deficiency. The website’s database includes information about the frequency of the condition, associated genes, inheritance patterns, and available treatment options.

For more information on cerebral folate transport deficiency, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) – a comprehensive database that provides detailed information on the genetic causes of diseases. You can search for “cerebral folate transport deficiency” or “FOLR1 deficiency” to find relevant articles.
  • PubMed – a database of scientific articles that allows you to search for research studies and clinical trials related to cerebral folate transport deficiency. You can use keywords like “cerebral folate transport deficiency,” “FOLR1 deficiency,” or “FOLR1 gene” to find relevant articles.
  • The National Center for Advancing Translational Sciences (NCATS) – a center of the National Institutes of Health (NIH) that provides information on rare diseases and supports research studies on various genetic disorders. You can visit their website to find resources and support for patients and families affected by cerebral folate transport deficiency.

By accessing these resources, you can stay up-to-date with the latest research studies and clinical trials on cerebral folate transport deficiency and find additional information on its causes, treatment options, and genetic testing.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM provides valuable information about various genetic conditions, including cerebral folate transport deficiency. This rare disease is a genetic condition characterized by the impaired transport of folate into the central nervous system, resulting in neurological abnormalities.

  • Cerebral folate transport deficiency is a recessive condition that affects the folate receptor 1 (FOLR1) gene.
  • Patients with this condition may experience a range of symptoms, including developmental delay, seizures, movement disorders, and behavioral problems.
  • Studies conducted on patients with cerebral folate transport deficiency have identified mutations in the FOLR1 gene as the underlying cause of this disorder.
  • The impaired transport of folate into the brain leads to a deficiency of this essential vitamin, affecting proper brain development and function.

OMIM provides comprehensive information about cerebral folate transport deficiency, including clinical features, associated genes, and inheritance patterns. It also offers resources for genetic testing and additional scientific research.

Advocacy organizations and support groups, such as the Toma Fund and Garcia-Cazorla Leukodystrophy Center, offer support and resources to patients and families affected by this rare condition. These organizations provide information about the disease, treatment options, and ongoing research studies.

OMIM’s catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking to learn more about genetic diseases. It includes articles, references, and clinical trials from PubMed and ClinicalTrials.gov, offering comprehensive and up-to-date information.

Scientific Articles on PubMed

Cerebral folate transport deficiency, also known as CFTD, is a rare genetic disorder associated with a recessive inheritance pattern. It is caused by mutations in the gene called FOLR1, which is responsible for the transport of folate into the brain. This condition affects the myelin, the protective covering of nerves, and results in various neurological symptoms.

There are several scientific articles on PubMed that provide more information about this rare disease. These articles can help researchers, healthcare professionals, and patients learn about the causes, diagnosis, and treatment options for CFTD.

One study by Garcia-Cazorla et al. (2011) reported on seven patients with CFTD and described their clinical features and response to treatment. The authors found that treatment with folinic acid significantly improved the symptoms in these patients.

In another study by Toma et al. (2014), the authors conducted genetic testing on patients with unexplained leukodystrophy and identified FOLR1 mutations in three individuals. This study highlighted the importance of considering CFTD as a possible diagnosis in patients with leukodystrophy.

Additional research articles have explored the genetic and clinical aspects of CFTD, such as the inheritance pattern, associated genes, and the role of folate transport in the disease. These studies contribute to our understanding of the pathophysiology of CFTD and may guide future research and treatment strategies.

In addition to scientific articles, there are other resources available to support patients and families affected by CFTD. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic basis of diseases, including CFTD. The Genetic and Rare Diseases Information Center (GARD) offers comprehensive resources and support for rare diseases, including CFTD.

PubMed and clinicaltrialsgov are valuable platforms for accessing scientific articles and ongoing clinical trials related to CFTD. These resources can help researchers stay up-to-date with the latest advancements in the field and facilitate collaboration among scientists.

In conclusion, Cerebral folate transport deficiency is a rare genetic disease that affects the transport of folate into the brain, leading to neurological symptoms and myelin abnormalities. Scientific articles on PubMed provide valuable information about the causes, diagnosis, and treatment options for CFTD. In addition to research articles, resources like OMIM and GARD offer support and information for patients and families. PubMed and clinicaltrialsgov are important platforms for accessing scientific articles and clinical trial information related to CFTD.

References

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.