Article
Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Annals of clinical and translational neurology - 1 Jul 2023
Liu Minglei, Wang Yangyang, Shi Changhe, Yuan Yanpeng, Li Lanjun, Zhang Xiaoyun, Xu Yuming, Yang Jing
Abstract excerpt
OBJECTIVE: Leukoencephalopathies are a group of heterogeneous disorders characterized by the degeneration of white matter, resulting in a variety of progressive neurological symptoms. To date, over 60 genes linked to genetic leukoencephalopathies have been discovered through whole-exome sequencing (WES) and long-read sequencing. Nonetheless, the genetic diversity and clinical variability of these disorders among...
Topics
- Adult
- Humans
- East Asian People
- Genetic Testing
- Leukoencephalopathies
- Mutation
- White Matter