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Article

Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.

European journal of neurology - 1 Feb 2015

Sundal Christina, Baker Matt, Karrenbauer Virginija, Gustavsen Marte, Bedri Sahl, Glaser Anna, Myhr Kjell-Morten, Haugarvoll Kristoffer, Zetterberg Henrik, Harbo Hanne, Kockum Ingrid, Hillert Jan, Wszolek Zbigniew, Rademakers Rosa, Andersen Oluf

Abstract excerpt

BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a devastating, hereditary white matter (WM) disorder with heterogeneous neuropsychiatric features. Colony stimulating factor 1 receptor (CSF1R) mutations were looked for in primary progressive multiple sclerosis (PPMS) patients and the clinical features of a family with a novel CSF1R mutation are reported. METHODS: CSF1R exons...

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Identifiers

PMID: 25311247
DOI: 10.1111/ene.12572
PMCID: PMC4289423

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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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