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Article

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.

European journal of neurology - 1 Jun 2018

Konno T, Miura T, Harriott A M, Mezaki N, Edwards E S, Rademakers R, Ross O A, Meschia J F, Ikeuchi T, Wszolek Z K

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in colony-stimulating factor 1 receptor (CSF1R) cause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Patients with ALSP can be misdiagnosed as having acute ischemic stroke due to hyperintensity lesions on diffusion-weighted magnetic resonance imaging. Mutant CSF1R proteins identified in ALSP show a complete loss of autophosphorylation of CSF1R....

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Identifiers

PMID: 29509319
DOI: 10.1111/ene.13611
PMCID: PMC5951747

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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