Therapy Trial Design in Vanishing White Matter
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000657
Abstract: Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes EIF2B1-EIF2B5. It is characterized by chronic neurologic deterioration with superimposed stress-provoked episodes of rapid decline. Disease onset spans from the antenatal… read more here.
Keywords: white matter; disease; vwm; trial ... See more keywords
Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2022.901452
Abstract: Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM. In this study,… read more here.
Keywords: matter disease; white matter; novel heterozygous; vanishing white ... See more keywords
Probable Vanishing White Matter Disease: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2021 at "Ethiopian Journal of Health Sciences"
DOI: 10.4314/ejhs.v31i6.28
Abstract: Background Vanishing white matter disease is one of the most prevalent inherited childhood leukoencephalopathies. The disease is characterized by chronic, progressive and episodic deterioration with ataxia and spasticity. Case Presentation Here, we report a 15-month-old… read more here.
Keywords: vanishing white; case; matter disease; disease ... See more keywords