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Article

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Brain pathology (Zurich, Switzerland) - 1 Sept 2014

Hoffmann Sarah, Murrell Jill, Harms Lutz, Miller Kelly, Meisel Andreas, Brosch Thomas, Scheel Michael, Ghetti Bernardino, Goebel Hans-Hilmar, Stenzel Werner

Abstract excerpt

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant disease clinically characterized by cognitive decline, personality changes, motor impairment, parkinsonism and seizures. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. We report clinical, neuropathological and molecular genetic findings of patients...

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Identifiers

PMID: 24428556
DOI: 10.1111/bpa.12120
PMCID: PMC8029294

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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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