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Article

CSF1R mutations in an Italian population of early-onset dementia: a case series.

Journal of neurology - 4 Feb 2026

Pancaldi Beatrice, Mastrangelo Andrea, Zilioli Alessandro, Ruggeri Edoardo, Vacchiano Veria, Pasini Elena, Busi Gabriele, Parchi Piero, Spallazzi Marco, Capellari Sabina

Abstract excerpt

The diagnostic approach to subjects with early-onset dementia (EOD) is often challenging due to the broader range of possible etiologies as compared to late-onset dementia cases. Pathogenic variants in CSF1R gene have been increasingly reported in subjects with EOD, mostly clinically mimicking behavioral variant of frontotemporal dementia (bvFTD). Here we screened for variants in CSF1R gene in a large cohort of...

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Identifiers

PMID: 41634195
DOI: 10.1007/s00415-026-13643-1
PMCID: PMC12868039

Genes

CSF1R

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

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