Hereditary diffuse leukoencephalopathy with spheroids caused by a novel locus mutation in CSF1R gene:a case report and literature review

VernacularTitle:CSF1R基因新位点突变致遗传性弥漫性白质脑病合并球状轴索1例
Author: Lu HAN ¹ ; Bolun ZHANG ; Lisha CHANG ; Songxin SHI ; Jiang ZHANG
Author Information

1. 华北理工大学附属医院神经内二科，唐山　063000
Publication Type:Journal Article
Keywords: Hereditary diffuse leukoencephalopathy; Colony-stimulating factor 1 receptor; Gane mutation; Cognitive impairment
From: Clinical Medicine of China 2025;41(1):67-70
CountryChina
Language:Chinese
Abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare case caused by a mutation in the colony-stimu-lating factor 1 receptor ( CSF1R) gene on chromosome 5. In this paper, we report a case of a young female patient with HDLS, mainly characterized by memory loss, cognitive impairment, delayed movement, and abnormal mental and behavioral states. Genetic testing revealed a missense mutation in the CSF1R gene.