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cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts type 1; this type accounts for 75 percent of all cases. The MLC1 gene provides instructions for producing a protein that is made primarily in the brain. The MLC1 protein is found in astroglial cells, which are a specialized form of brain cells called glial cells. Glial cells protect and maintain other neurons. The MLC1 protein functions at junctions that connect neighboring astroglial cells. The role of the MLC1 protein at the cell junction is unknown, but research suggests that it may control the flow of fluids into cells or the strength of cells&#x27; attachment to one another (cell adhesion).</p><p>Mutations in the HEPACAM gene cause megalencephalic leukoencephalopathy with subcortical cysts types 2A and 2B; together, these types account for 20 percent of all cases. The HEPACAM gene provides instructions for making a protein called GlialCAM. This protein primarily functions in the brain, particularly in glial cells. GlialCAM attaches (binds) to other GlialCAM proteins or to the MLC1 protein and guides them to cell junctions. The function of GlialCAM at the cell junction is unclear.</p><p>Most MLC1 gene mutations alter the structure of the MLC1 protein or prevent the cell from producing any of this protein, leading to a lack of functional MLC1 protein at the astroglial cell junctions. HEPACAM gene mutations lead to a protein that is unable to correctly transport GlialCAM and MLC1 proteins to cell junctions. It is unknown how a lack of functional MLC1 or GlialCAM protein at cell junctions in the brain impairs brain development and function, causing the signs and symptoms of megalencephalic leukoencephalopathy with subcortical cysts.</p><p>Approximately 5 percent of people with megalencephalic leukoencephalopathy with subcortical cysts do not have identified mutations in the MLC1 or HEPACAM gene. In these individuals, the cause of the disorder is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Megalencephalic leukoencephalopathy with subcortical cysts?"},{"bodyHtml":"<p>The brain abnormalities in people with megalencephalic leukoencephalopathy with subcortical cysts affect the use of muscles and lead to movement problems. Affected individuals typically experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some people lose the ability to walk early in life and need wheelchair assistance, while others are able to walk unassisted well into adulthood. Minor head trauma can further impair movements and may lead to coma. Affected individuals may also develop uncontrolled muscle tensing (dystonia), involuntary writhing movements of the limbs (athetosis), difficulty swallowing (dysphagia), and impaired speech (dysarthria). More than half of all people with this condition have recurrent seizures (epilepsy). Despite the widespread brain abnormalities, people with this condition typically have only mild to moderate intellectual disability.</p><p>There are three types of megalencephalic leukoencephalopathy with subcortical cysts, which are distinguished by their signs and symptoms and genetic cause. Types 1 and 2A have different genetic causes but are nearly identical in signs and symptoms. Types 2A and 2B have the same genetic cause but the signs and symptoms of type 2B often begin to improve after one year. After improvement, individuals with type 2B usually have macrocephaly and may have intellectual disability.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"megalencephalic-leukoencephalopathy-with-subcortical-cysts","sourceDocuments":[{"name":"Megalencephalic leukoencephalopathy with subcortical cysts","reviewed":"2015-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:12.727021+00:00","label":"Causes","pageSha256":"d05aa2101cb6b7dd0e7de723fc96b7ba7dab53c8c52f88083f7cae95040875e8","sourceUrl":"https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Megalencephalic leukoencephalopathy with subcortical cysts"},"schemaVersion":1}