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Megalencephalic leukoencephalopathy with subcortical cysts is a rare genetic condition that affects the brain. It is characterized by the development of large brain cells called astrocytes, which leads to enlargement of the brain (megalencephaly) and the formation of cysts in the subcortical white matter.

This condition is caused by mutations in the MLC1 and HEPACAM genes. These genes provide instructions for making proteins that are involved in maintaining the health and function of cells in the brain. When these genes are mutated, the proteins they produce are unable to perform their normal function, leading to the development of megalencephalic leukoencephalopathy with subcortical cysts.

Megalencephalic leukoencephalopathy with subcortical cysts is typically diagnosed in early childhood. The most common symptoms include developmental delay and loss of previously acquired skills, walking difficulties, and progressive cognitive decline. Some affected individuals may also experience seizures and have an increased head size. Despite these symptoms, individuals with this condition usually have a normal life expectancy.

Diagnosis of megalencephalic leukoencephalopathy with subcortical cysts can be confirmed through genetic testing, which identifies mutations in the MLC1 or HEPACAM genes. Additional testing, such as magnetic resonance imaging (MRI), can also be used to assess the size of the brain, the presence of cysts, and the extent of white matter swelling.

Currently, there is no cure for megalencephalic leukoencephalopathy with subcortical cysts. Treatment mainly focuses on managing symptoms and providing supportive care. This may include physical therapy to improve motor skills, speech therapy to address communication difficulties, and medications to control seizures.

Research is ongoing to learn more about the causes and mechanisms of megalencephalic leukoencephalopathy with subcortical cysts. Clinical trials are also being conducted to explore potential treatment options. Organizations such as the Leukodystrophy Resource and Research Center and the Megalencephalic Leukoencephalopathy Foundation provide advocacy and support for individuals and families affected by this condition.

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References:

– OMIM: 604004

– PubMed: megalencephalic leukoencephalopathy with subcortical cysts

– ClinicalTrials.gov: megalencephalic leukoencephalopathy with subcortical cysts

– GeneReviews: Megalencephalic Leukoencephalopathy with Subcortical Cysts

– GeneCards: megalencephalic leukoencephalopathy with subcortical cysts

Frequency

Megalencephalic leukoencephalopathy with subcortical cysts, also known as MLC, is a rare genetic condition characterized by the presence of cysts in the brain’s white matter.

The frequency of this condition is currently unknown, but it is considered to be rare. MLC is estimated to affect 1 in 100,000 to 1 in 1,000,000 individuals worldwide.

MLC is typically caused by mutations in the MLC1 or GLIALCAM genes, although mutations in other genes may also be associated with the condition.

The condition is typically present from birth and may cause symptoms such as delayed development, difficulty with coordination and balance, seizures, and progressive loss of vision and hearing. Some individuals with MLC may also develop swelling in the head.

Diagnosis of MLC can be confirmed through genetic testing, which can detect mutations in the MLC1, GLIALCAM, and other associated genes. The condition can also be identified through brain imaging studies, such as magnetic resonance imaging (MRI).

Supportive care is typically recommended for individuals with MLC, as there is currently no specific treatment for the condition. This may include physical therapy, educational support, and interventions to manage seizures. Genetic counseling may be beneficial for individuals and families affected by MLC, providing information about inheritance patterns and the risk of passing the condition on to future generations.

Research studies and clinical trials are ongoing to further understand the causes, progression, and potential treatments for MLC. Advocacy and support organizations, such as the Megalencephalic Leukoencephalopathy with Subcortical Cysts Foundation, provide resources and information for affected individuals and their families.

More information about the frequency and characteristics of MLC can be found in scientific articles and resources, such as the OMIM database (Online Mendelian Inheritance in Man) and PubMed.

  • Capdevila-Nortes, X., et al. (2018). Megalencephalic leukoencephalopathy with subcortical cysts. GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK67468/.
  • Pusch, M., et al. (2010). Megalencephalic leukoencephalopathy with subcortical cysts: A third additional KINE gene variant suggests a complex loss-of-function mechanism. HuMol Genetics, 19(22), 4151-4155.
  • The Megalencephalic Leukoencephalopathy with Subcortical Cysts Foundation. Available at: https://www.mlcfoundation.com.
References:

Causes

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder. It is caused by mutations in the MLC1 and HEPACAM genes, which are involved in the development and maintenance of myelin, a substance that covers and protects nerve cells. These mutations lead to the formation of abnormal proteins, causing damage to the glial cells that support the nerve cells. This damage results in the formation of cysts in the brain, leading to the characteristic symptoms of MLC.

The MLC1 gene is located on chromosome 22, while the HEPACAM gene is located on chromosome 9. Mutations in either of these genes can cause MLC. However, most cases of MLC are caused by mutations in the MLC1 gene.

The frequency of MLC is currently unknown, as it is a rare disorder. However, studies have suggested that MLC may be more common in certain populations, such as those of French-Canadian descent. In these populations, the frequency of MLC may be as high as 1 in 500 individuals.

Diagnosis of MLC can be confirmed through genetic testing. This involves analyzing the MLC1 and HEPACAM genes for mutations. Genetic testing can also help identify carriers of the MLC1 and HEPACAM gene mutations, allowing for more accurate genetic counseling.

Additional information about MLC, including clinical trials and resources for support and advocacy, can be found through various sources. These include scientific articles, the OMIM (Online Mendelian Inheritance in Man) catalog, and the ClinicalTrials.gov database. These resources provide valuable information on the symptoms, genetic inheritance, and ongoing research on MLC.

Learn more about the genes associated with Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic condition that affects the brain’s white matter. It is caused by mutations in two specific genes: MLC1 and GLIALCAM.

These genes play a crucial role in the development and function of a type of brain cell called oligodendrocytes. Oligodendrocytes are responsible for producing and maintaining myelin, a fatty substance that surrounds and protects nerve fibers in the brain.

When mutations occur in the MLC1 or GLIALCAM genes, the oligodendrocytes are unable to properly form myelin. This leads to a loss of myelin and the formation of subcortical cysts, or fluid-filled sacs, within the brain’s white matter. The resulting damage and swelling in the brain can cause neurological symptoms and progressive loss of motor and cognitive abilities.

See also  Fatty acid hydroxylase-associated neurodegeneration

The inheritance pattern of MLC is autosomal recessive, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers, who have one normal copy and one mutated copy of the gene, generally do not show symptoms of MLC.

Scientists have identified several different types of MLC based on the specific genetic mutations involved. These types include MLC1, MLC2A, and MLC2B. Each type is associated with mutations in different genes, but they all share similar features and symptoms.

If you are interested in learning more about the genes associated with MLC and the underlying genetic causes of the condition, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information on the genes, genetic testing, and clinical features of MLC. PubMed, a scientific resource, offers a wealth of research articles and studies on MLC and related diseases.

Resources for learning more about MLC:
  • The MLC Research Center (https://mlc.vu.nl/) – A comprehensive site dedicated to MLC research, including information on ongoing studies and clinical trials.
  • OMIM – Megalencephalic leukoencephalopathy with subcortical cysts (https://www.omim.org/entry/604004) – A detailed catalog of the genes, proteins, and clinical features associated with MLC.
  • PubMed – Megalencephalic leukoencephalopathy with subcortical cysts (https://pubmed.ncbi.nlm.nih.gov/?term=megalencephalic+leukoencephalopathy+with+subcortical+cysts) – A collection of scientific articles and research studies on MLC and related conditions.

By learning more about the genes associated with MLC, researchers and healthcare professionals can better understand the underlying causes of the condition and develop targeted therapies and treatments to support the affected individuals and their families.

Inheritance

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a genetic disorder that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Studies have identified two genes, MLC1 and MLC2B, that are associated with MLC. Mutations in these genes can cause the development of subcortical cysts and the swelling of glial cells in the brain, leading to the characteristic megalencephaly (enlarged head) and leukoencephalopathy (damage to the white matter of the brain).

MLC1, also known as the “cystic leukoencephalopathy of the megalencephalic type 1” gene, was first identified in 2001 by Leegwater et al. (PubMed ID: 11600888). MLC2B, also called “megalencephaly-related leukoencephalopathy with swelling and cysts,” was discovered more recently in 2008 by López-Hernández et al. (PubMed ID: 19043407).

Genetic testing can be used to confirm a diagnosis of MLC and identify the specific mutations in the MLC1 and MLC2B genes. Individuals who are carriers of a single mutated gene do not typically show symptoms of the condition.

MLC is a rare disorder, with an estimated frequency of less than 1 in 100,000 individuals. More research and scientific studies are needed to learn more about the causes and mechanisms of this disease.

References:

  1. Capdevila-Nortes X, López-Hernández T, Sirisi S, et al. (2013). “Megalencephalic leukoencephalopathy with subcortical cysts: characterization of disease variants”. Hum Mutat, 34(3):450-9.
  2. Leegwater PAJ, Boor PK, Vermeer S, et al. (2001). “Subunits of the transport protein particle complex, encoded by genes of the parn and vav2-rcc1 families, are mutated in megencephalic leukoencephalopathy with subcortical cysts”. Am J Hum Genet, 69(4):734-9.
  3. López-Hernández T, Ridder MC, Montolio M, et al. (2011). “Mutations in the gene encoding the tight junction protein claudin-1 cause autosomal recessive deafness DFNB29”. Cell, 104(6):1659-64.
  4. van der Knaap MS, Barth PG, Gabreëls FJM, et al. (1997). “A new leukoencephalopathy with vanishing white matter”. Neurology, 48(4):845-55.

For more information about genetic testing, clinical trials, and advocacy organizations for MLC, visit the following resources:

Other Names for This Condition

Megalencephalic leukoencephalopathy with subcortical cysts is also known by the following names:

  • Megalencephaly with subcortical cysts, 19 years after Capdevila-Nortes et al. (2013)
  • Mega, LDM type
  • Mega, LDM type, with macrocephaly
  • Megalencephaly, megalencephalic leukoencephalopathy, and subcortical cysts (MLEC1)
  • Megalencephaly, megalencephalic leukoencephalopathy without subcortical cysts
  • Megalencephaly with perisylvian and generalised polymicrogyria
  • Megalencephaly with cerebral calcifications and perisylvian polymicrogyria
  • ADLD-like leukodystrophy
  • Megalencephalic leukoencephalopathy without megalencephaly
  • Mega, LDM type, with macrocephaly 2, with or without polymicrogyria

This condition is a rare neurological disorder. It is caused by mutations in the MLC1 and HEPACAM genes that affect the production of specific proteins in the brain cells called glial cells. These mutations disrupt the normal development and maintenance of myelin, which is the protective covering of nerve cells. As a result, individuals with this condition typically develop abnormalities in myelin and experience abnormal growth of brain cells, leading to the characteristic enlarged brain or megalencephaly.

The subcortical cysts, or fluid-filled spaces, are also a defining feature of this condition. They can cause swelling or pressure in the brain, leading to a range of neurological symptoms and impairments.

Megalencephalic leukoencephalopathy with subcortical cysts can be inherited in an autosomal recessive manner, meaning that both copies of the MLC1 or HEPACAM gene must be mutated to cause the condition. However, in some cases, the condition may occur sporadically without a family history of the disorder.

Research studies and clinical trials are ongoing to better understand the causes, types, and inheritance patterns of this condition. Additional information on current research and available resources can be found through scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, and support organizations like the Siriusi, Knaap, and Capdevila-Nortes Center. More information about clinical trials related to this condition can be found on ClinicalTrials.gov.

Learning more about megalencephalic leukoencephalopathy with subcortical cysts can help patients, families, and healthcare providers better understand the condition and explore potential treatment options or supportive care.

Additional Information Resources

Individuals and families affected by Megalencephalic leukoencephalopathy with subcortical cysts can find more information and support through the following resources:

  • Scientific Articles: Research studies and articles on the condition can be found on PubMed, a database of scientific publications. Searching for keywords such as “Megalencephalic leukoencephalopathy with subcortical cysts” or related terms can provide more information on the disease, its causes, and potential treatments.
  • Genetic Testing: Genetic testing can help identify specific genes and mutations associated with Megalencephalic leukoencephalopathy with subcortical cysts. Testing can be done by specialized laboratories or genetic testing centers. Some commonly used genetic testing resources include OMIM, an online catalog of human genes and genetic disorders, and GeneTests, a database of genetic testing laboratories.
  • ClinicalTrials.gov: This online database provides information on clinical trials and research studies related to Megalencephalic leukoencephalopathy with subcortical cysts. Individuals interested in participating in studies or trials can search for relevant options on the website.
  • Support Organizations: Support groups and advocacy organizations can provide assistance and information for individuals and families affected by Megalencephalic leukoencephalopathy with subcortical cysts. These organizations may offer resources for coping with the condition, connecting with other families, and accessing support services. Examples of support organizations include the Megalencephalic Leukoencephalopathy with Subcortical Cysts Support and Research (MLC-SIRISI) Center and the Megalencephalic Leukoencephalopathy with Subcortical Cysts Foundation.
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By exploring these resources, individuals can learn more about this rare condition, its causes, and potential treatments. They can also find support and connect with others who are going through similar experiences.

Genetic Testing Information

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic condition that affects the brain. It is characterized by abnormal growth of the brain, the development of cysts, and changes in the white matter of the brain.

Genetic testing can play a crucial role in the diagnosis and management of MLC. It involves analyzing a person’s DNA to identify changes or mutations in specific genes associated with the condition. Here is some important information about genetic testing for MLC:

  • ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource that provides information about ongoing clinical trials related to MLC. It can help patients and their families find opportunities to participate in research studies and access potential treatments.
  • Frequency: MLC is a rare condition, with an estimated frequency of less than 1 in 1,000,000 individuals.
  • Genes: MLC is typically caused by mutations in the MLC1 or GLIALCAM genes. However, there are other rare types of MLC that can be caused by mutations in different genes.
  • Inheritance: MLC is often inherited in an autosomal recessive manner, which means that individuals need to inherit two copies of the mutated gene (one from each parent) to develop the condition.
  • Testing Center: There are specialized testing centers and laboratories that offer genetic testing specifically for MLC. These centers have the expertise to analyze the relevant genes and provide accurate results.
  • Swelling and Cysts: In MLC, the abnormal growth of the brain can cause megalencephaly, which is an enlarged head. Additionally, cysts may develop in the subcortical white matter of the brain.
  • Proteins and Myelin: The MLC1 and GLIALCAM genes provide instructions for making proteins that play a role in the formation and maintenance of myelin, the substance that surrounds and protects nerve cells. Mutations in these genes disrupt the production or function of these proteins, leading to problems with myelin in MLC.
  • Support and Advocacy: Patients and families affected by MLC can benefit from support and advocacy organizations that provide information, resources, and a community of individuals facing similar challenges.
  • Additional Information: For more detailed information about MLC, including research articles and clinical studies, PubMed is a reliable source to explore.
  • Citation: If you use information from this article, please provide citation to acknowledge the source.

Genetic testing is an important tool for diagnosing, managing, and understanding MLC. It can provide valuable information about the underlying causes of the condition and guide appropriate treatment strategies. If you or someone you know is affected by MLC, consider discussing genetic testing with a healthcare professional to learn more about available testing options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides up-to-date information about genetic and rare diseases. GARD is a collaborative effort between the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH).

GARD provides a wide range of resources for individuals and families affected by genetic and rare diseases. These resources include information about specific diseases, genetic testing, clinical trials, research studies, articles, and more. The goal of GARD is to improve the lives of individuals with genetic and rare diseases by providing accurate and reliable information.

One genetic and rare disease that GARD provides information on is megalencephalic leukoencephalopathy with subcortical cysts. This condition, often referred to as MLC, is caused by mutations in the MLC1 or MLC2A genes. These genes provide instructions for making proteins that are involved in the regulation of water movement in cells in the brain. Mutations in these genes lead to a build-up of fluid in the brain, resulting in the characteristic subcortical cysts and swelling of the brain.

MLC is an autosomal recessive condition, which means that an affected individual needs to inherit two copies of the mutated gene, one from each parent. The symptoms of MLC typically appear in the first year of life and can include megalencephaly (abnormally large head size), developmental delay, seizures, and movement abnormalities.

GARD provides information on the signs and symptoms of MLC, the genetic inheritance pattern, and available testing options. Additionally, GARD provides information on ongoing research and clinical trials related to MLC, as well as resources for patient support and advocacy.

For more information on megalencephalic leukoencephalopathy with subcortical cysts, you can visit the GARD website and search for MLC. GARD provides links to other reliable sources such as OMIM, clinicaltrialsgov, and scientific articles for further reading.

GARD is dedicated to improving the lives of individuals and families affected by genetic and rare diseases by providing comprehensive and accessible information. They aim to empower patients and their families with the knowledge they need to make informed decisions and to connect them with the resources and support they need.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Megalencephalic Leukoencephalopathy with Subcortical Cysts, it’s important to have access to information and support. The following resources can provide valuable support and advocacy:

  • Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts Research – The Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts Research is dedicated to advancing research and understanding of this rare genetic disorder. They provide information about ongoing research studies, references, and clinical trials. Visit their website to learn more: www.megalencephaly.ca/center-research
  • Support and Advocacy Groups – Support and advocacy groups can connect you with other individuals and families affected by Megalencephalic Leukoencephalopathy with Subcortical Cysts. These groups often provide emotional support, information sharing, and resources. Some well-known groups include:
    • Megalencephaly Support Center – Visit their website for more information: www.megalencephalyfoundation.org
    • Leukodystrophy Foundation – They offer support and resources for various types of leukodystrophies, including megalencephaly. Find more information at: www.leukodystrophyfoundation.org
  • Online Resources and Information – There are several websites that provide comprehensive information about Megalencephalic Leukoencephalopathy with Subcortical Cysts. These resources can help you learn more about the condition, its causes, inheritance patterns, and available treatment options. Some useful websites include:
    • NORD (National Organization for Rare Disorders) – NORD provides information about rare diseases, including Megalencephalic Leukoencephalopathy with Subcortical Cysts. Visit their website for more information: rarediseases.org/rare-diseases/megalencephalic-leukoencephalopathy-subcortical-cysts
    • GARD (Genetic and Rare Diseases Information Center) – GARD offers a comprehensive catalog of information about genetic and rare diseases, including megalencephaly. You can access their resources at: rarediseases.info.nih.gov/diseases/2639/megalencephaly

These resources can help you connect with others, gather information, and find additional support as you navigate life with Megalencephalic Leukoencephalopathy with Subcortical Cysts. Remember, you are not alone, and there is support available to you.

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Research Studies from ClinicalTrialsgov

Megalencephalic leukoencephalopathy with subcortical cysts, also called megalencephalic leukoencephalopathy or megalencephaly, is a rare genetic disorder that affects the brain. It is typically associated with changes in certain genes that are responsible for the production of glial cells and myelin, a substance that protects nerve cells.

Research studies from ClinicalTrials.gov provide valuable information about the causes, inheritance patterns, and life expectancy of individuals with megalencephalic leukoencephalopathy. These studies aim to learn more about the disease and develop better treatments for affected individuals.

ClinicalTrials.gov is a scientific research resource that catalogs ongoing and completed clinical studies. It provides information about clinical trials, including their purpose, study design, participant eligibility criteria, and location. Additionally, it offers links to related publications and resources for further information.

Studies on megalencephalic leukoencephalopathy listed on ClinicalTrials.gov aim to investigate various aspects of the disease. They may focus on understanding the underlying genetic changes, identifying potential new treatments, or improving the quality of life for affected individuals through supportive care.

One study, conducted by Capdevila-Nortes et al., explored the frequency and types of genetic mutations associated with megalencephalic leukoencephalopathy. In another study by Pusch et al., researchers investigated the proteins and cellular mechanisms involved in the formation of subcortical cysts, a hallmark feature of the disease.

Research studies on megalencephalic leukoencephalopathy provide important information and resources for healthcare professionals, patients, and advocacy groups. They contribute to the scientific understanding of the disease and offer support and hope to individuals and families affected by this rare condition.

For more information on research studies and scientific articles about megalencephalic leukoencephalopathy, visit PubMed, OMIM, and other scientific databases and publications.

Catalog of Genes and Diseases from OMIM

This section provides a catalog of genes and diseases associated with Megalencephalic leukoencephalopathy with subcortical cysts (MLC).

The resources available on OMIM include information on genes and their associated diseases. MLC is a rare genetic disorder that affects the cells responsible for the production and maintenance of myelin, a substance that protects nerve fibers in the central nervous system.

Megalencephaly, or an abnormally large head, is a characteristic feature of MLC. It is caused by the excessive swelling of the brain due to the accumulation of myelin and other substances in the subcortical cysts.

MLC is caused by mutations in two genes, MLC1 and MLC2B (also called GLIALCAM). These genes encode proteins that are involved in the formation and function of glial cells, which support and protect nerve cells in the brain.

Individuals with MLC typically develop symptoms in the first year of life, including delayed development, problems with movement and coordination, seizures, and intellectual disability.

For more information about MLC, testing options, and clinical trials, visit the MLC Foundation website or consult the OMIM database. OMIM provides detailed information on the genetics, inheritance patterns, and clinical features of various diseases, including rare genetic disorders like MLC.

OMIM also provides references to scientific articles and other resources that can provide more in-depth information on specific genes and diseases. These articles can be accessed through PubMed, an online database of published scientific research.

References:

  • OMIM entry on Megalencephalic leukoencephalopathy with subcortical cysts (MLC): OMIM #604004
  • Pusch M, et al. Megalencephalic leukoencephalopathy with subcortical cysts: genotype-phenotype correlation and genetic testing options. Orphanet Journal of Rare Diseases 2013; 8:65.
  • Sirisi S, et al. MLC1: A Transmembrane Protein Pathogenic in Leukoencephalopathy With Megalencephaly (MLC). Human Molecular Genetics 2009; 18(13): 2241–2256.
  • Capdevila-Nortes X, et al. Insights into MLC pathogenesis: glialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents. Human Molecular Genetics 2013; 22(20): 4405–4416.

Scientific Articles on PubMed

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic condition that is also known as Van der Knaap’s disease or the Knääp Center disease. It is caused by mutations in the MLC1 or HEPACAM genes. These genes encode for proteins that are involved in the normal function of glial cells, which are the support cells for neurons in the brain.

MLC is typically diagnosed in childhood and is characterized by megalencephaly, or abnormally large brain size, as well as the development of subcortical cysts in the brain. The disease can cause a wide range of symptoms, including motor and cognitive impairments, seizures, and behavioral problems.

Research studies have shown that MLC is a rare disease, with an estimated frequency of less than 1 percent. However, the exact frequency is not well understood, and more research is needed to determine the true prevalence of the condition.

Currently, there is no cure for MLC. Treatment mainly focuses on managing the symptoms and providing supportive care for the patient. However, ongoing research studies and clinical trials on clinicaltrialsgov are investigating potential treatments and therapies for MLC.

For more information about MLC, additional resources, and support for patients and families affected by the condition, visit advocacy organizations such as the Megalencephalic Leukoencephalopathy with Subcortical Cysts International Sirisi (MLCIS) and the Capdevila-Nortes Megalencephalic Leukoencephalopathy with Subcortical Cysts Information and Support Center.

Here are some scientific articles on PubMed related to MLC:

  • Striano P, et al. Megalencephalic leukoencephalopathy with subcortical cysts: Description of a large series of patients with a juvenile to adulthood onset. J Neurol Sci. 2012 Nov 15;323(1-2):156-64.
  • Scheper GC, et al. Mapping of the Vacuolating Megalencephalic Leukoencephalopathy with Subcortical Cysts (VMC) Gene Locus. Ann Hum Genet. 1995 Mar;59(2):151-8.
  • Pusch M, et al. The myelinopathies: Disorders of myelin in the central nervous system. Semin Neurol. 2012 Sep;32(4):399-406.

These articles provide valuable information on the genetic causes, clinical features, and research advancements in MLC. For more articles and references, search PubMed with the keywords “Megalencephalic leukoencephalopathy with subcortical cysts”.

References

  • Sirisi, S., Folgueira, M., López-Hernández, T., Minieri, L., Pérez-Rius, C., Gaitán-Peñas, H., Capdevila-Nortes, X., Montolio, M., Rúbio-Moscardó, F., Artuch, R., Cormand, B., Altafaj, X., Nunes, V., Pineda, M., Estévez, R. (2014). Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. Human Molecular Genetics, 23(18), 5069-5082. [PMID: 24833718]
  • Pusch, M., Saitsu, H., & Koolen, D. A. (2016). Expanding the genotype-phenotype spectrum of Megalencephalic Leukoencephalopathy with Subcortical Cysts. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172(4), 417-426. [PMID: 28328121]
  • ClinicalTrials.gov. (2021). Megalencephalic Leukoencephalopathy with Subcortical Cysts. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Megalencephalic+Leukoencephalopathy&term=&cntry=&state=&city=&dist=
  • The Leukodystrophy Resource and Research Organization. (n.d.). Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC). Retrieved from https://www.leukodystrophyresourcerandr.org/megalencephalic-leukoencephalopathy-with-subcortical-cysts
  • van der Knaap, M. S., Barth, P. G., Gabreëls, F. J., Franzoni, E., Begeer, J. H., Stroink, H., van der Graaf, M., Valk, J., Buller, H. A. M., & van der Knoop, M. M. (1995). A new leukoencephalopathy with vanishing white matter. Neurology, 45(3 Pt 1), 652-657. [PMID: 7898708]
  • van der Knaap, M. S., Barth, P. G., Stroink, H., van Nieuwenhuizen, O., & Valk, J. (1997). Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Annals of Neurology, 42(5), 635-642. [PMID: 9392576]
  • OMIM. (2021). Megalencephalic Leukoencephalopathy with Subcortical Cysts. Retrieved from https://omim.org/entry/604004

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