The phenotypic and genetic spectrum of colony-stimulating factor 1 receptor gene-related leukoencephalopathy in China
- VernacularTitle:中国CSF1R基因相关性白质脑病的临床及遗传学特点
- Author:
Jingying WU
1
;
Zaiqiang ZHANG
;
Qing LIU
;
Jun XU
;
Weihai XU
;
Liyong WU
;
Zhiying WU
;
Kang WANG
;
Jianjun WU
;
Zhangyu ZOU
;
Haishan JIANG
;
Wei ZHANG
;
Wei GE
;
Yuhu ZHANG
;
Tongxia ZHANG
;
Lixia ZHANG
;
Zhanhang WANG
;
Li LING
;
Chang ZHOU
;
Yun LI
;
Beisha TANG
;
Jianguang TANG
;
Ping ZHONG
;
Liang SHANG
;
Yimin SUN
;
Guixian ZHAO
;
Xiuhe ZHAO
;
Hongfu LI
;
Jiong HU
;
Jieling JIANG
;
Chao ZHANG
;
Xinghua LUAN
;
Yuwu ZHAO
;
Wotu TIAN
;
Feixia ZHAN
;
Xiaohang QIAN
;
Huidong TANG
;
Yuyan TAN
;
Chunkang CHANG
;
Youshan ZHAO
;
Li CAO
Author Information
- Keywords: Leukoencephalopathies; Genetic diseases, inborn; Receptors, colony-stimulating factor; Mutation
- From: Chinese Journal of Neurology 2021;54(11):1109-1118
- CountryChina
- Language:Chinese
- Abstract: Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.
