Article
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2022
Ren Yuting, Yu Xueying, Chen Bin, Tang Hefei, Niu Songtao, Wang Xingao, Pan Hua, Zhang Zaiqiang
Abstract excerpt
BACKGROUND: Vanishing white matter (VWM) is one of the most prevalent leukoencephalopathies and is caused by recessive mutations in gene eIF2B1-5. The onset may vary from an antenatal disorder that is rapidly fatal to an adult-onset disorder with chronic progressive deterioration. METHODS: Based on a comprehensive study of 14 juvenile/adult patients diagnosed in our department as well as a review of 71 previously...
Topics
- Adolescent
- Adult
- Child
- China
- Eukaryotic Initiation Factor-2B
- Female
- Humans
- Leukoencephalopathies
- Magnetic Resonance Imaging
- Mutation