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

Autor:	Jin-Hong Shin, Ae Young Lee, Juyoun Lee, Eun Hee Sohn
Rok vydání:	2021
Předmět:	Pathology medicine.medical_specialty medicine.diagnostic_test business.industry Leukodystrophy Neuropsychology Magnetic resonance imaging medicine.disease Asymptomatic Leukoencephalopathy Arts and Humanities (miscellaneous) Neuroimaging medicine Missense mutation Neurology (clinical) Cognitive decline medicine.symptom business
Zdroj:	Neurocase. 27:415-418
ISSN:	1465-3656 1355-4794
DOI:	10.1080/13554794.2021.1981947
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4d7c552026aef7675198e8abd8190d48 https://doi.org/10.1080/13554794.2021.1981947 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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