Research progress on ALSP caused by CSF1R gene mutations
10.3969/j.issn.1002-0152.2024.03.011
- VernacularTitle:CSF1R基因突变致ALSP发病研究进展
- Author:
Zhengping HUANG
1
,
2
;
Jiawei JIANG
;
Shufen LIU
;
Xiaofang YE
;
Mimi LI
;
Jianlong ZHUANG
;
Lichao YE
;
Chunnuan CHEN
Author Information
1. 福建医科大学附属第二医院神经内科(泉州 362000)
2. 福建医科大学第二临床医学院
- Keywords:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia;
Leukoencephalopathy;
Colony-stimulating factor 1 receptor;
Genetic diseases;
Microglia;
Mutations
- From:
Chinese Journal of Nervous and Mental Diseases
2024;50(3):173-178
- CountryChina
- Language:Chinese
-
Abstract:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia(ALSP)is a clinically rare autosomal dominant genetic disease,and its specific pathogenesis is not yet clear.The colony-stimulating factor 1 receptor(CSF1R)is a transmembrane tyrosine kinase receptor on the cell surface and mutations in the gene encoding it have been identified as potential pathogenic factors for ALSP.However,the specific mechanisms by which CSF1R gene mutations lead to the onset of ALSP are still unclear.After reviewing the mutation sites and pathogenic mechanisms of CSF1R in the pathogenesis of ALSP,CSF1R mutations have been shown to cause microglial dysfunction through mechanisms such as dominant-negative effects,loss of function,haploinsufficiency,and gain of function,thereby leading to the onset of ALSP.A deeper understanding of the causes of ALSP will help in exploring potential treatment methods.
