Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The First Autopsy-Proven Case of CSF1R-Related Leukoencephalopathy Harboring the p.Cys774Arg Mutation.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Jun 2026

Hatsuta Hiroyuki, Takeda Akitoshi, Fujita Tomomi, Nakayama Yuji, Yagita Kaoru, Sano Terunori, Shimono Taro, Sakamoto Kaori, Kohashi Kenichi, Obinata Ai, Kizaki Toshiya, Hara Norikazu, Miyashita Akinori, Ikeuchi Takeshi, Itoh Yoshiaki, Takao Masaki

Abstract excerpt

We report the first autopsy-proven case of colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy harboring the CSF1R mutation c.2320T>C (p.Cys774Arg). The patient, a man in his 40s, exhibited progressive neuropsychiatric symptoms with predominant frontal white matter lesions and corpus callosum atrophy. Neuropathological examination revealed frontal-predominant demyelination with a relatively...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autopsy
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to APOE gene

Share to Leukoencephalopathies

Share to Mutation

Share to Receptor, Macrophage Colony-Stimulating Factor

Share to Receptors, Granulocyte-Macrophage Colony-Stimulating Factor

Source

Identifiers

PMID: 42261087
DOI: 10.1111/neup.70065

Genes

CSF1R
APOE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The First Autopsy-Proven Case of CSF1R-Related Leukoencephalopathy Harboring the p.Cys774Arg Mutation.PMID 42261087Read ↗

CSF1R -related leukoencephalopathySemantic proximity Read ↗

CSF1R-related Adult-onset Leukoencephalopathy: The First Reported Case in Spain.Semantic proximity Read ↗

CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.Semantic proximity Read ↗

Novel CSF1R variant in adult-onset leukoencephalopathy masquerading as frontotemporal dementia: a follow-up study.Semantic proximity Read ↗

CSF1R mutation presenting as dementia with Lewy bodiesSemantic proximity Read ↗

Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.Semantic proximity Read ↗

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.Semantic proximity Read ↗

A novel mutation in colony-stimulating factor 1 receptor (CSF1R) causing CSF1R-related disorder (CSF1R-RD).Semantic proximity Read ↗

Summary author response: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.Semantic proximity Read ↗

CSF1R-related leukoencephalopathy.Semantic proximity Read ↗

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

CSF1R-Related Leukoencephalopathy Caused by CSF1R p.Arg777Trp and CSF1R p.Arg782Cys Mutations: A Report of Four Cases in SwedenSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.