Megalencephalic leukoencephalopathy with subcortical cysts

What causes megalencephalic leukoencephalopathy with subcortical cysts (MLC)?

The majority of individuals with MLC have mutations in the MLC1 _gene. Mutations within this gene account for approximately 75% of all cases. The _MLC1 gene provides instructions for making a protein found primarily in astroglial cells in the brain. Astroglial cells are a specialized type of glial cell, which are cells that protect and maintain nerve cells. The role of the MLC1 protein is not fully understood; however, it is suspected to be involved in the control of fluids into cells or the strength of cells' attachment to one another.

Approximately 20% of individuals with MLC have mutations in the HEPACAM _gene. The _HEPACAM gene provides instructions for making a protein called GlialCAM, which primarily functions in the brain, particularly in glial cells. GlialCAM attaches to other GlialCAM proteins or to the MLC1 protein and guides them to the space between cells (cell junctions). The function of GlialCAM at the cell junction is unclear.

About 5% of individuals with MLC do not have identifiable mutations in either the MLC1 or HEPACAM gene. In these individuals, the cause of MLC is not known.

Last updated on 05-01-20

What is megalencephalic leukoencephalopathy with subcortical cysts (MLC)?

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. In MLC, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy).

Leukoencephalopathy can lead to abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, mild to moderate intellectual disabilities, speech difficulties, seizures, and difficulties walking. There are three types of MLC, which are distinguished by their signs and symptoms and genetic cause. Type 1 is caused by mutations in the MLC1 gene. Types 2A and 2B are caused by mutations in the HEPACAM gene. MLC types 1 and 2A are inherited in an autosomal recessive manner, while type 2B is inherited in an autosomal dominant manner. In approximately 5% of individuals with MLC, the cause is unknown.

Although there is no specific treatment or cure for MLC, there are ways to manage the symptoms, such as use of antiepileptic drugs, physical therapy, and speech therapy. Management additionally includes avoiding injury to the head, which can temporarily worsen symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

Last updated on 05-01-20

What is the chance to have another child with megalencephalic leukoencephalopathy with subcortical cysts (MLC)?

The chance to have another child with MLC varies depending on the the underlying cause. We recommend that you speak with a genetics professional to learn more about the specific risks to your future offspring. These type of professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. They can talk with you further about your testing options and risks to future offspring.

Last updated on 05-01-20

Where To Start

NINDS - megalencephaly

The National Institute of Neurological Disorders and Stroke (NINDS) provides more information on megalencephaly. NINDS collects and disseminates research information related to neurological disorders.

Last updated on 04-27-20

United leukodystrophy foundation - ban der knapp syndrome

The United Leukodystrophy Foundation has developed an information page on Megalencephalic leukoencephalopathy with subcortical cysts. Click on the link above to view this information page.

Last updated on 04-27-20

cleveland clinic - megalencephaly

The Cleveland Clinic has developed an information page on megalencephaly. Click on the link above to view this information page

Last updated on 04-27-20

Name: United Leukodystrophy Foundation (ULF) 224 North Second Street Suite 2
DeKalb, IL, 60115 , United States
Phone: 815-748-3211 Toll Free: 800-728-5483 Fax : 815-748-0844 Email: office@ulf.org Url: http://www.ulf.org/
Name: The Adrenoleukodystrophy Foundation 241 Camden Street
Slidell, LA, 70461, United States
Phone: 985-718-4728 Email: info@aldfoundation.org Url: http://www.aldfoundation.org
Name: Leukodystrophy Australia PO Box 2550 Mount Waverly
Victoria, 3149, Australia
Phone: 1800 141 400 Email: info@leuko.org.au Url: http://www.leuko.org.au/
Name: The Myelin Project P.O. Box 39
Pacific Palisades, CA, 90272, United States
Phone: 800-869-3546; 806 356 4693 Fax : 806 356 4694 Email: info@myelin.org Url: http://www.myelin.org
Name: Association Européenne contre les Leucodystrophies (ELA) European Leukodystrophy Association 2, rue Mi-les-Vignes
BP 61024
54521 Laxou Cedex, France
Phone: 333 83 30 93 34 Fax : 333 83 30 00 68 Email: ela@ela-asso.com Url: http://www.ela-asso.com
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: info@alextlc.org Url: https://www.alextlc.org
Name: European Association against Leukodystrophy ELA 2, rue Mi-les-Vignes BP 61024 54521
Laxou Cedex
France
Email: http://ela-asso.com/en/contact-2/ Url: http://ela-asso.com/en/

Connect with other users with Megalencephalic leukoencephalopathy with subcortical cysts on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App