Gene research progress of hypomyelinating leukodystrophies
10.3760/cma.j.cn101070-20220831-01020
- VernacularTitle:低髓鞘化脑白质营养不良的基因研究进展
- Author:
Kexin PANG
1
;
Min ZHU
;
Jian TANG
;
Le DING
Author Information
1. 南京医科大学附属儿童医院康复医学科，南京 210008
- Keywords:
Gene;
Hypomyelinating leukodystrophy;
Neurodegenerative diseases;
Research progress
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(1):69-73
- CountryChina
- Language:Chinese
-
Abstract:
Hypomyelinating leukodystrophies (HLDs) are a group of neurodegenerative diseases characterized by decreased myelination in the central nervous system, with diverse clinical manifestations like psychomotor retardation and dyskinesia.Some HLDs patients have epilepsy, microcephaly and other clinical manifestations.At present, there is no specific treatment of HLDs, and the prognosis is usually poor.At present, with the wide application of gene screening in clinical practice, many pathogenic genes related to HLDs have been found.It is particularly important to clarify the pathogenesis and clinical phenotypic changes of HLDs.
