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Article

Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three cases.

Neurogenetics - 18 May 2026

Xie Sifen, Yang Qiqiong, Pan Mengqiu, Hu Yepeng, Huang Nayang, Chen Zhongjie, Ye Jinlong, Luo Sheng, Wang Zhanhang, Kuang Zuying

Abstract excerpt

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant neurodegenerative disorder caused by CSF1R variants, which lead to microglial dysfunction and progressive white matter degeneration. This study identified CSF1R variants in three unrelated Chinese patients with HDLS. We identified heterozygous CSF1R variants (NM_001288705.3) in three unrelated Chinese patients with...

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Identifiers

PMID: 42149272
DOI: 10.1007/s10048-026-00907-1

Genes

CSF1R

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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