Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.

ABSTRACT:

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 various racial groups remain largely unknown. Therefore, this study aims to analyze the genetic spectrum and clinical features of Chinese adult leukoencephalopathies and compare the genetic profiles in different populations.

Methods

A total of 129 patients suspected of possible genetic leukoencephalopathy were enrolled and underwent WES and dynamic mutation analysis.

SUBMITTER: Liu M 

PROVIDER: S-EPMC10351660 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature