A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature
Jie Chen,1 Shiying Luo,1 Ning Li,1 Huimin Li,1 Jinming Han,2 Li Ling1 1Department of Neurology, Affiliated Hospital of Hebei University, Baoding, People’s Republic of China; 2Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, SwedenCorrespondence: Li LingDepartment of N...
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doaj-2bc064ca1edb486aa837382e47e24f022020-12-22T19:44:58ZengDove Medical PressInternational Journal of General Medicine1178-70742020-12-01Volume 131613162060545A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of LiteratureChen JLuo SLi NLi HHan JLing LJie Chen,1 Shiying Luo,1 Ning Li,1 Huimin Li,1 Jinming Han,2 Li Ling1 1Department of Neurology, Affiliated Hospital of Hebei University, Baoding, People’s Republic of China; 2Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, SwedenCorrespondence: Li LingDepartment of Neurology, Affiliated Hospital of Hebei University, Baoding, People’s Republic of ChinaEmail 592201535@qq.comJinming HanDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, SwedenEmail jinming.han@ki.seAbstract: 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.Keywords: CSF1R-related leukoencephalopathy, clinical symptoms, CSF1Rhttps://www.dovepress.com/a-novel-missense-mutation-of-the-csf1r-gene-causes-incurable-csf1r-rel-peer-reviewed-article-IJGMcsf1r-related leukoencephalopathyclinical symptomscsf1r |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Chen J Luo S Li N Li H Han J Ling L |
spellingShingle |
Chen J Luo S Li N Li H Han J Ling L A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature International Journal of General Medicine csf1r-related leukoencephalopathy clinical symptoms csf1r |
author_facet |
Chen J Luo S Li N Li H Han J Ling L |
author_sort |
Chen J |
title |
A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature |
title_short |
A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature |
title_full |
A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature |
title_fullStr |
A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature |
title_full_unstemmed |
A Novel Missense Mutation of the CSF1R Gene Causes Incurable CSF1R-Related Leukoencephalopathy: Case Report and Review of Literature |
title_sort |
novel missense mutation of the csf1r gene causes incurable csf1r-related leukoencephalopathy: case report and review of literature |
publisher |
Dove Medical Press |
series |
International Journal of General Medicine |
issn |
1178-7074 |
publishDate |
2020-12-01 |
description |
Jie Chen,1 Shiying Luo,1 Ning Li,1 Huimin Li,1 Jinming Han,2 Li Ling1 1Department of Neurology, Affiliated Hospital of Hebei University, Baoding, People’s Republic of China; 2Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, SwedenCorrespondence: Li LingDepartment of Neurology, Affiliated Hospital of Hebei University, Baoding, People’s Republic of ChinaEmail 592201535@qq.comJinming HanDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, SwedenEmail jinming.han@ki.seAbstract: 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.Keywords: CSF1R-related leukoencephalopathy, clinical symptoms, CSF1R |
topic |
csf1r-related leukoencephalopathy clinical symptoms csf1r |
url |
https://www.dovepress.com/a-novel-missense-mutation-of-the-csf1r-gene-causes-incurable-csf1r-rel-peer-reviewed-article-IJGM |
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