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Article

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

Neurocase - 1 Oct 2021

Sohn Eun Hee, Lee Juyoun, Lee Ae Young, Shin Jin-Hong

Abstract excerpt

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...

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Identifiers

PMID: 34633276
DOI: 10.1080/13554794.2021.1981947

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