Article
EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.
Italian journal of pediatrics - 27 Jul 2022
Filareto Ilaria, Cinelli Giulia, Scalabrini Ilaria, Caramaschi Elisa, Bergonzini Patrizia, Spezia Elisabetta, Todeschini Alessandra, Iughetti Lorenzo
Abstract excerpt
BACKGROUND: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease is still little understood, but it seems to involve impairment in maturation of astrocytes; as a consequence white matter is more prone to cellular stress. Disease is caused by mutations in five genes encoding subunits of the translation initiation factor eIF2B. We know...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.