Discover Community Create You

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

Article

Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.

Histopathology - 1 Jan 2016

Fernández-Vega Ivan, Pérez de Heredia-Goñi Katti, Santos-Juanes Jorge, Goñi Imizcoz Miguel, Zaldumbide Laura, Zarranz Juan Jose, Ferrer Isidro

Abstract excerpt

AIMS: Adult-onset orthochromatic leucodystrophy, associated with pigmented macrophages and hereditary diffuse leucoencephalopathy with spheroids, are two disorders with similar clinical manifestations, radiological characteristics and neuropathological findings. Mutations in the colony-stimulating factor 1 receptor (CSF1R) gene are the hallmark of this spectrum of disease. Furthermore, polycystic membranous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Leukodystrophy, Metachromatic

Share to Membrane Glycoproteins

Share to Neuroglia

Share to Receptors, Immunologic

Source

Identifiers

PMID: 26018837
DOI: 10.1111/his.12741

Genes

TREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.PMID 26018837Read ↗

Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.Semantic proximity Read ↗

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.Semantic proximity Read ↗

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.Semantic proximity Read ↗

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.Semantic proximity Read ↗

Two clinicopathological cases of a dominantly inherited, adult onset orthochromatic leucodystrophy.Semantic proximity Read ↗

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.Semantic proximity Read ↗

AARS2 Compound Heterozygous Variants in a Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented GliaSemantic proximity Read ↗

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

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.Semantic proximity Read ↗

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.Semantic proximity Read ↗

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Semantic proximity Read ↗

Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.Semantic proximity Read ↗

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