Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis
| Autor: | Raúl Estévez, Ilja Boor, Marjo S. van der Knaap |
|---|---|
| Přispěvatelé: | Pediatric surgery, NCA - Childhood White Matter Diseases, Neuroscience Campus Amsterdam - Childhood White Matter Diseases |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Pathology
medicine.medical_specialty HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts Brain Edema Cell Cycle Proteins Biology Ion Channels White matter Leukoencephalopathies medicine Animals Homeostasis Humans Disease gene Cysts Specific function Brain Membrane Proteins Proteins Water medicine.disease Pathophysiology Hereditary Central Nervous System Demyelinating Diseases medicine.anatomical_structure Chronic Disease Chloride channel Neurology (clinical) SDG 6 - Clean Water and Sanitation Neuroscience |
| Zdroj: | Lancet Neurology, 11(11), 973-985. Lancet Publishing Group van der Knaap, M S, Boor, P K I & Estevez, R 2012, ' Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis ', Lancet Neurology, vol. 11, no. 11, pp. 973-985 . https://doi.org/10.1016/S1474-4422(12)70192-8 |
| ISSN: | 1474-4422 |
| Popis: | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterised by chronic white matter oedema. The disease has an infantile onset and leads to slow neurological deterioration in most cases, but, surprisingly, some patients recover. The first disease gene, MLC1, identified in 2001, is mutated in 75% of patients. At that time, nothing was known about MLC1 protein function and the pathophysiology of MLC. More recently, HEPACAM (also called GLIALCAM) has been identified as a second disease gene. GlialCAM serves as an escort for MLC1 and the chloride channel CLC2. The defect in MLC1 has been shown to hamper the cell volume regulation of astrocytes. One of the most important consequences involves the potassium siphoning process, which is essential in brain ion and water homoeostasis. An understanding of the mechanisms of white matter oedema in MLC is emerging. Further insight into the specific function of MLC1 is necessary to find treatment targets. © 2012 Elsevier Ltd. |
| Databáze: | OpenAIRE |
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