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Article

MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

Neurology - 7 Aug 2012

Sundal Christina, Van Gerpen Jay A, Nicholson Alexandra M, Wider Christian, Shuster Elizabeth A, Aasly Jan, Spina Salvatore, Ghetti Bernardino, Roeber Sigrun, Garbern James, Borjesson-Hanson Anne, Tselis Alex, Swerdlow Russell H, Miller Bradley B, Fujioka Shinsuke, Heckman Michael G, Uitti Ryan J, Josephs Keith A, Baker Matt, Andersen Oluf, Rademakers Rosa, Dickson Dennis W, Broderick Daniel, Wszolek Zbigniew K

Abstract excerpt

OBJECTIVE: To describe the brain MRI characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating factor 1 receptor gene (CSF1R) on chromosome 5. METHODS: We reviewed 20 brain MRI scans of 15 patients with autopsy- or biopsy-verified HDLS and CSF1R mutations. We assessed sagittal T1-, axial T1-, T2-, proton density-weighted and axial...

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Identifiers

PMID: 22843259
DOI: 10.1212/WNL.0b013e318263575a
PMCID: PMC3413763

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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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