A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report

A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report

ObjectiveWe report a case of CSF1R-microglial encephalopathy associated with a rare intronic c.2654 + 1G>A mutation, featuring negative diffusion-weighted imaging (DWI) findings and a cerebrospinal fluid (CSF) biomarker profile indicative of Alzheimer’s disease-related changes, and we explore...

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Bibliographic Details
Main Authors:	HongYan Wu, JingYu Shi, XiaoShan Wang, Mei Yang, Jing Cai
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-08-01
Series:	Frontiers in Genetics
Subjects:	CSF1R (colony stimulating factor 1 receptor) microglia dementia gene magnetic resonance imaging
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1593964/full
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