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Article

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

Neurology - 14 Jan 2014

Konno Takuya, Tada Masayoshi, Tada Mari, Koyama Akihide, Nozaki Hiroaki, Harigaya Yasuo, Nishimiya Jin, Matsunaga Akiko, Yoshikura Nobuaki, Ishihara Kenji, Arakawa Musashi, Isami Aiko, Okazaki Kenichi, Yokoo Hideaki, Itoh Kyoko, Yoneda Makoto, Kawamura Mitsuru, Inuzuka Takashi, Takahashi Hitoshi, Nishizawa Masatoyo, Onodera Osamu, Kakita Akiyoshi, Ikeuchi Takeshi

Abstract excerpt

OBJECTIVE: To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) with the colony stimulating factor 1 receptor (CSF-1R) mutation. METHODS: We performed molecular genetic analysis of CSF-1R in patients with HDLS. Detailed clinical and neuroimaging findings were retrospectively investigated. Five patients were...

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Identifiers

PMID: 24336230
DOI: 10.1212/WNL.0000000000000046
PMCID: PMC3937843

Provenance

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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