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Article

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

Brain : a journal of neurology - 1 Jun 2016

Eichler Florian S, Li Jiankang, Guo Yiran, Caruso Paul A, Bjonnes Andrew C, Pan Jessica, Booker Jessica K, Lane Jacqueline M, Tare Archana, Vlasac Irma, Hakonarson Hakon, Gusella James F, Zhang Jianguo, Keating Brendan J, Saxena Richa

Abstract excerpt

Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. We identified a novel, heterozygous missense mutation in CSF1R [c.1990G > A p.(E664K)] by exome sequencing in five members of a family with hereditary diffuse leukoencephalopathy with axonal spheroids. Three affected siblings had characteristic...

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Source

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Identifiers

PMID: 27190017
DOI: 10.1093/brain/aww066
PMCID: PMC4892751

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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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