ReviewFrontiers in neurology2021
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Review in Frontiers in neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.Orphanet journal of rare diseases · 2023Pooled it
- Phase 1, First-In-Human, Single-/Multiple-Ascending Dose Study of Iluzanebart in Healthy Volunteers.Annals of clinical and translational neurology · 2025Trial
- Marked intrafamilial phenotypic heterogeneity associated with the CSF1R c.2539G>A pathogenic variant in a Japanese family.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Hematopoietic Stem Cell Transplantation for CSF1R-Related Disorder: A Longitudinal Study of Efficacy and Safety.Journal of movement disorders · 2026Article
- A Case of Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia mimicking Multiple Sclerosis.Dementia and neurocognitive disorders · 2026Article
- CSF1R-related leukoencephalopathy: experimental models and potential for treatment.Disease models & mechanisms · 2026Review
- Microglial SWELL1 deficiency drives male-specific seizure vulnerability but paradoxical neuroprotection through impaired phagocytosis.JCI insight · 2026Article
- Natural History of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP): A Retrospective Patient Cohort Study.Neurology and therapy · 2026Article
- Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders.Annals of clinical and translational neurology · 2026Article
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Clinical and Pathological Features of CSF1R-Related Disorder Associated With the p.R777Q Pathogenic Variant.Journal of movement disorders · 2026Article
- A strategy of microglia replacement alleviates microgliopathy in a CSF1R I794T hotspot mutation mouse model of CSF1R-related disorder.Cell reports. Medicine · 2026Article
- CSF1R T567M mutation induces microglial dysfunction and synaptic impairment in patient iPSC-derived cerebral organoids of CSF1R-related disorder.Cell death discovery · 2026Article
- CSF1R mutations in an Italian population of early-onset dementia: a case series.Journal of neurology · 2026Article
- The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.Brain communications · 2026Article
- Mutations in the human CSF1R gene impact microglia's maintenance of brain white matter integrity.Nature immunology · 2025Article
- Microglial SWELL1 Deficiency Drives Male-Specific Seizure Vulnerability but Paradoxical Neuroprotection through Impaired Phagocytosis.bioRxiv : the preprint server for biology · 2025Article
- Article
- Aging-related inflammatory and metabolic disorder in the novel mutation ofGenes & diseases · 2025Article
- Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry.Scientific reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 10 institutions in 6 countries.
Funding
Abstract
A comprehensive review of published literature was conducted to elucidate the genetics, neuropathology, imaging findings, prevalence, clinical course, diagnosis/clinical evaluation, potential biomarkers, and current and proposed treatments for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), a rare, debilitating, and life-threatening neurodegenerative disorder for which disease-modifying therapies are not currently available. Details on potential efficacy endpoints for future interventional clinical trials in patients with ALSP and data related to the burden of the disease on patients and caregivers were also reviewed. The information in this position paper lays a foundation to establish an effective clinical rationale and address the clinical gaps for creation of a robust strategy to develop therapeutic agents for ALSP, as well as design future clinical trials, that have clinically meaningful and convergent endpoints.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.