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Article

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Neurology - 3 Dec 2013

Karle Kathrin N, Biskup Saskia, Schüle Rebecca, Schweitzer Katherine J, Krüger Rejko, Bauer Peter, Bender Benjamin, Nägele Thomas, Schöls Ludger

Abstract excerpt

OBJECTIVE: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is caused by autosomal-dominantly inherited mutations in the colony stimulating factor 1 receptor (CSF1R) gene, and is clinically characterized by a progressive cognitive and motor decline leading to death within several years. METHODS: In a continuous series of 25 patients with adult-onset leukoencephalopathy of unknown cause, we...

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Identifiers

PMID: 24198292
DOI: 10.1212/01.wnl.0000436945.01023.ac

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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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