Open AccessA Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature
Author(s) -
Jie Chen,
Sheng Luo,
Ning Li,
Huimin Li,
Jinming Han,
Ling Li
Publication year - 2020
Publication title -
international journal of general medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.722
H-Index - 36
ISSN - 1178-7074
DOI - 10.2147/ijgm.s286421
Subject(s) - missense mutation , leukoencephalopathy , medicine , mutation , gene , gene mutation , pathology , bioinformatics , genetics , biology , disease
CSF1R -related leukoencephalopathy, mainly caused by the mutation of the colony stimulating factor 1 receptor ( CSF1R ) gene on chromosome 5, is an underestimated neurological disease typically presenting as early-onset cognitive decline and personality changes. Currently, there is no specific treatment for CSF1R -related leukoencephalopathy. Most clinicians failed to recognize this disease during an early disease stage, leading to a high rate of misdiagnosis. Although rare, an increasing amount of CSF1R -related leukoencephalopathy cases have been reported recently. In this study, we first report a 35-year-old woman with CSF1R -related leukoencephalopathy carrying a novel missense mutation c.2463G >C (p.W821C) of CSF1R . An extensive literature research was performed in order to better understand the broader genetic and clinical characteristics of CSF1R -related leukoencephalopathy. A total of 147 patients with CSF1R -related leukoencephalopathy confirmed either by the genetic test or brain biopsy were identified. Among them, 49 patients were sporadic, and the rest of individuals had a family history originating from 46 different families. Our study indicated that the average age of CSF1R -related leukoencephalopathy onset was 41.4 years. Typical clinical symptoms of CSF1R -related leukoencephalopathy include cognitive decline, movement disorders, behavior changes and mental disorders. Genetic studies have reported 93 missense mutations, 13 splicing mutations, 6 deletion/insertion mutations, 1 code shift mutation and 1 nonsense mutation of the CSF1R gene in patients with CSF1R -related leukoencephalopathy. Early genetic detection and brain biopsy would be helpful for a confirmed diagnosis, and more translational studies are needed to combat this devastating disease.