A case report of colony-stimulating factor-1 receptor-related leukoencephalopathy resulting from a de novo mutation in the CSF1R gene
10.3760/cma.j.cn113694-20250224-00103
- VernacularTitle:集落刺激因子1受体基因新发突变致集落刺激因子1受体相关白质脑病1例
- Author:
Xiaoyin WANG
1
;
Haochen SUN
1
;
Yanfang ZHANG
1
;
Huixia LIN
1
;
Yuan GAO
1
;
Yanyan LIU
1
;
Ruijuan SHA
1
Author Information
1. 南京医科大学附属脑科医院神经内科，南京 210029
- Publication Type:Journal Article
- Keywords:
Leukoencephalopathy;
CSF1R gene;
De novo mutation;
Missense mutation;
Dynamic evolution of imaging
- From:
Chinese Journal of Neurology
2025;58(10):1095-1101
- CountryChina
- Language:Chinese
-
Abstract:
Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy (CSF1R-L) is a rare autosomal dominant neurodegenerative disorder caused by mutations in the CSF1R gene. It is typically characterized by rapidly progressive cognitive decline, motor dysfunction, and psychiatric or behavioral abnormalities, leading to significant disability and early mortality. More than 100 mutations of CSF1R have been identified in CSF1R-L, but the clinical-genotype relationship is unclear. This report describes a case of CSF1R-L that initially presented with atypical symptoms of left lower limb pain, numbness, and weakness. Despite the non-specific presentation, comprehensive imaging data were available throughout the disease course. Genetic testing identified a heterozygous missense mutation in exon 18 of the CSF1R gene (c.2508CA, p.Ser836Arg), a novel variant not previously reported in the literature. This case offers valuable insights into the dynamic progression of cranial MRI changes in CSF1R-L, broadens the genetic spectrum of this disease, enhances awareness among clinicians, and provides crucial information for the early diagnosis of this condition.
