A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests. Issue 5 (3rd September 2021)

• Record Type: Journal Article
• Authors: Sohn, Eun Hee; Lee, Juyoun; Lee, Ae Young; Shin, Jin-Hong
• Is Part Of: Neurocase. Volume 27:Issue 5(2021)
• Page Start: 415
• Page End: 418
• Publication Date: 2021-09-03
• Subjects: Leukoencephalopathy -- hereditary diffuse leukoencephalopathy with axonal spheroids -- colony-stimulating factor 1 receptor -- magnetic resonance imaging -- neuropsychological tests; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2021.1981947
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: Colony-stimulating factor 1 receptor (CSF1R) -related leukoencephalopathy is one of the most common causes of adult-onset leukodystrophy and is caused by mutation of the CSF1R gene. Brain magnetic resonance imaging (MRI) findings in asymptomatic patients have not been well recognized. We report on the case of a patient with CSF1R -related leukoencephalopathy who had a novel missense variant of the CSF1R gene with a family history of early onset dementia. This is a representative case of CSF1R -related leukoencephalopathy, which shows the progression of brain MRI and cognitive decline from an asymptomatic state.