Research progress on ALSP caused by CSF1R gene mutations
Journal Title: Chinese Journal of Nervous and Mental Diseases - Year 2024, Vol 50, Issue 3
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.
Authors and Affiliations
Zhengping HUANG, Jiawei JIANG, Shufen LIU, Xiaofang YE, Mimi LI, Jianlong ZHUANG, Lichao YE, Chunnuan. CHEN
Keywords
Related Articles
- EP ID EP750444
- DOI 10.3969/j.issn.1002-0152.2024.03.011
- Views 18
- Downloads 0
Research progress of nanomaterials in nose-to-brain delivery for glioblastoma treatment
Glioblastoma (GBM) stands as one of the most aggressive brain tumors, and its pharmacological therapy is severely limited due to the presence of the blood-brain barrier (BBB). Nose-to-brain drug delivery has emerged as a...
Progress in clinical treatment of low-grade gliomas
low-grade glioma (LGG) is a slow-growing primary brain tumor originating from glial cells. The overall prognosis of LGG is good but incurable. The vast majority of LGG will have relapses, and some even progress to high-g...
A progress in neuroimaging research on the central mechanisms of botulinum toxin in the treatment of focal dystonia
Botulinum toxin (BoNT) is currently the first-line method for treating focal dystonia, which causes muscle paralysis by chemical denervation. Recent neuroimaging studies have found that BoNT treatment could alter neuropl...
Effect of injection volume on clinical efficacy after minimally invasive puncture and drainage in the treatment of moderate basal ganglia cerebral hemorrhage underlying controlling the dosage of drugs in the elderly
[Objective] To investigate the effect of injection volume on clinical efficacy after minimally invasive puncture and drainage in the treatment of moderate basal ganglia cerebral hemorrhage underlying controlling the dosa...
The correlation between cognitive impairment and DNA methylation in the GRIN2B gene promoter region in bipolar depression patients with anxiety symptom
[Objective] To explore the correlation between cognitive function and methylation levels of various CpG sites in the promoter region of the glutamate ionotropic receptor NMDA type subunit 2B (GRIN2B) gene in patients wit...