Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2022

Du Qin, Wang Minjin, Zhou Hongyu

Abstract excerpt

BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant disorder with high penetrance characterized by progressive cognitive and motor dysfunction. The objective of the study was to describe a new variant of the colony stimulating factor-1 receptor (CSF1R) gene causing HDLS in a Chinese family. METHODS: Physical examinations, laboratory tests, structural...

Topics

Join the communities discussing this publication.

Child
Heterozygote
Leukoencephalopathies
Magnetic Resonance Imaging
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Macrophage Colony-Stimulating Factor

Receptors, Granulocyte-Macrophage Colony-Stimulating Factor

Source

Identifiers

PMID: 33948764
DOI: 10.1007/s10072-021-05296-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids.PMID 33948764Read ↗

A family with hereditary diffuse leukoencephalopathy with spheroids caused by a novel c.2442+2T>C mutation in the CSF1R gene.Semantic proximity Read ↗

Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature reviewSemantic proximity Read ↗

Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three cases.Semantic proximity Read ↗

Identification of a de novo splicing mutation in the CSF1R gene in a Chinese patient with hereditary diffuse leukoencephalopathy with spheroids.Semantic proximity Read ↗

Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.Semantic proximity Read ↗

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.Semantic proximity Read ↗

Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).Semantic proximity Read ↗

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.Semantic proximity Read ↗

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).Semantic proximity Read ↗

A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.Semantic proximity Read ↗

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.Semantic proximity Read ↗

[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.