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Article

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.

Journal of the neurological sciences - 15 Feb 2015

Kim Eun-Joo, Shin Jin-Hong, Lee Jeong Hee, Kim Jong Hun, Na Duk L, Suh Yeon-Lim, Hwang Sun Jae, Lee Jae-Hyeok, Lee Young Min, Shin Myung-Jun, Lee Myung Jun, Kim Seong-Jang, Yoon Uicheul, Park Do Youn, Jung Dae Soo, Ahn Jae Woo, Sung Suk, Huh Gi Yeong

Abstract excerpt

We describe detailed clinical, biochemical, neuroimaging and neuropathological features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), linked to colony-stimulating factor 1 receptor (CSF1R) mutations in four Korean cases. Clinical, biochemical,...

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PMID: 25563800
DOI: 10.1016/j.jns.2014.12.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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