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Article

Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.

BMC neurology - 13 Sept 2016

Shu Yaqing, Long Ling, Liao Siyuan, Yang Jiezheng, Li Jianfang, Qiu Wei, Yang Yu, Bao Jian, Wu Aiming, Hu Xueqiang, Lu Zhengqi

Abstract excerpt

BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Involvement of the optic nerves in hereditary diffuse leukoencephalopathy is rare. CASE PRESENTATION: We report the case of a 30-year-old Chinese woman with HDLS,...

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Source

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Identifiers

PMID: 27619214
DOI: 10.1186/s12883-016-0694-0
PMCID: PMC5020510

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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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