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Article

CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.

Internal medicine (Tokyo, Japan) - 15 Sept 2017

Daida Kensuke, Nishioka Kenya, Li Yuanzhe, Nakajima Sho, Tanaka Ryota, Hattori Nobutaka

Abstract excerpt

We herein report the case of a 47-year-old female with the colony-stimulating factor 1 receptor (CSF1R) mutation p.G589R, which is related to hereditary leukoencephalopathy with axonal spheroid (HDLS). The patient presented with an early-onset cognitive decline and progressive aphasia. Brain magnetic resonance imaging revealed HDLS-related alterations. In addition, brain computed tomography revealed interspersed...

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Identifiers

PMID: 28824062
DOI: 10.2169/internalmedicine.8462-16
PMCID: PMC5643183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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