Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families
- Publication Type
- Original research
- Authors
- Fulltext
- Download
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.
Journal
- Title
- brain and development journal
- Publisher
- Elsevier
- Publisher Country
- Netherlands
- Indexing
- Scopus
- Impact Factor
- 1.961
- Publication Type
- Online only
- Volume
- 44
- Year
- 2022
- Pages
- 8