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

doi:10.1038/ng.1027

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

Community

Back to search

Article

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

Nature genetics - 25 Dec 2011

Rademakers Rosa, Baker Matt, Nicholson Alexandra M, Rutherford Nicola J, Finch NiCole, Soto-Ortolaza Alexandra, Lash Jennifer, Wider Christian, Wojtas Aleksandra, DeJesus-Hernandez Mariely, Adamson Jennifer, Kouri Naomi, Sundal Christina, Shuster Elizabeth A, Aasly Jan, MacKenzie James, Roeber Sigrun, Kretzschmar Hans A, Boeve Bradley F, Knopman David S, Petersen Ronald C, Cairns Nigel J, Ghetti Bernardino, Spina Salvatore, Garbern James, Tselis Alexandros C, Uitti Ryan, Das Pritam, Van Gerpen Jay A, Meschia James F, Levy Shawn, Broderick Daniel F, Graff-Radford Neill, Ross Owen A, Miller Bradley B, Swerdlow Russell H, Dickson Dennis W, Wszolek Zbigniew K

Abstract excerpt

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, seizures and other phenotypes. We combined genome-wide linkage analysis with exome sequencing and identified 14 different mutations affecting the tyrosine kinase...

Read the complete abstract on PubMed

Topics

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aged, 80 and over

Share to Exome

Share to Genetic Linkage

Share to Leukodystrophy, Globoid Cell

Share to Phosphorylation

Share to Protein-Tyrosine Kinases

Share to Receptor, Macrophage Colony-Stimulating Factor

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 22197934
DOI: 10.1038/ng.1027
PMCID: PMC3267847

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.PMID 22197934Read ↗

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

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

A novel mutation in CSF1R associated 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 spheroids (HDLS): a review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene].Semantic proximity Read ↗

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.Semantic proximity Read ↗

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

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

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.Semantic proximity Read ↗

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

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