A case of CSF1R-related leukoencephalopathy: serial neuroimaging and neuropsychological tests.
Eun Hee SohnJuyoun LeeAe Young LeeJin-Hong ShinPublished in: Neurocase (2021)
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.
Keyphrases
- magnetic resonance imaging
- early onset
- cognitive decline
- mild cognitive impairment
- contrast enhanced
- computed tomography
- ejection fraction
- genome wide
- magnetic resonance
- newly diagnosed
- copy number
- gene expression
- cerebrospinal fluid
- white matter
- resting state
- intellectual disability
- cognitive impairment
- chronic kidney disease
- transcription factor
- cross sectional
- blood brain barrier
- cerebral ischemia
- brain injury