Jessica A Herstine, Pi-Kai Chang, Sergiy Chornyy, Tamara J Stevenson, Alex C Sunshine, Ksenia Nokhrina, Jessica Rediger, Julia Wentz, Tatyana A Vetter, Erika Scholl, Caleb Holaway, Nettie K Pyne, Anna Bratasz, Stewart Yeoh, Kevin M Flanigan, Joshua L Bonkowsky, Allison M Bradbury
Leukoencephalopathy with Vanishing White Matter (VWM) is a progressive incurable white matter disease that most commonly occurs in childhood and presents with ataxia, spasticity, neurological degeneration, seizures, and premature death. A distinctive feature is episodes of rapid neurological deterioration provoked by stressors such as infection, seizures, or trauma. VWM is caused by autosomal recessive mutations in one of five genes that encode the Eukaryotic Initiation Factor 2B complex, which is necessary for protein translation and regulation of the integrated stress response...
March 27, 2024: Molecular Therapy