Brain white matter oedema due ClC-2 chloride channel defiency.
Brain white matter oedema are disorders of megalencephalic leukoencephalopathy with subcortical cysts (MLC), a rarely form of leucodystrophy. This pathology characterised by MRI evidence of swelling of white matter du to an increase of water.
Work of Christel Depienne, researcher in Institut du Cerveau – ICM in Alexis Brice’s team with collaborators, highlight on physiological role of ClC-2 chloride channel involved in water homeostasis in white matter of humain brain.
Thanks to an analysis to genome to tissu, Christel Depienne and her collaborators, are identified mutations in CLCN2 gene in patients with leukoencephalopathy revealed by MRI signal abnormalities like myelin microvacuolation in white matter.