Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families

Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI evidence of diffuse symmetric white matter swelling and subcortical cysts in the anterior temporal and frontoparietal regions. Later in the disease course, significant spasticity and ataxia develop, which may be accompanied by intellectual deterioration. This disease is caused mostly by biallelic pathogenic variants in the MLC1 gene.

Source: Brain and Development - April 16, 2022 Category: Neurology Authors: Reham Khalaf-Nazzal, Imad Dweikat, Mosab Maree, Maysa Alawneh, Myassar Barahmeh, Rasha T. Doulani, Mohammad Qrareya, Mohammad Qadi, Anwar Dudin Tags: Original article Source Type: research