A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests

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.

Automated summary

CSF1R-related leukoencephalopathy is a common cause of adult-onset leukodystrophy, caused by mutation of the CSF1R gene. Brain MRI findings in asymptomatic patients may not be well recognized, as shown in this representative case tracking the progression of the disease.