ArticleAnnals of translational medicine2020
Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review.
Article in Annals of translational medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 40 citations in OpenAlex.
- Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three cases.Neurogenetics · 2026Article
- CSF1R mutations in an Italian population of early-onset dementia: a case series.Journal of neurology · 2026Article
- Article
- Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry.Scientific reports · 2025Article
- Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).Journal of neurology · 2024Article
- Deciphering glial contributions to CSF1R-related disorder via single-nuclear transcriptomic profiling: a case study.Acta neuropathologica communications · 2024Article
- Therapeutic potential of human microglia transplantation in a chimeric model of CSF1R-related leukoencephalopathy.Neuron · 2024Article
- Article
- Allogenic microglia replacement: A novel therapeutic strategy for neurological disorders.Fundamental research · 2024Review
- Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies.Frontiers in neurology · 2024Article
- Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds: case report.Acta neurologica Belgica · 2023Article
- Adult-Onset Leukoencephalopathy with Axonal Spheroid and Pigmented Glia: Different Histological Spectrums Presented in Autopsy Cases of Siblings and a Surgical Case of Stereotactic Biopsy.Diagnostics (Basel, Switzerland) · 2023Article
- Modeling CSF-1 receptor deficiency diseases - how close are we?The FEBS journal · 2022Review
- Two Novel Intronic Mutations in theFrontiers in cell and developmental biology · 2022Article
- From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.Journal of human genetics · 2021Review
- Three novel mutations in Chinese patients withAnnals of translational medicine · 2021Article
- Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.Frontiers in neurology · 2021Review
- Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.Frontiers in aging neuroscience · 2021Review
- Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy.Acta neuropathologica communications · 2020Review
- Amyloid-β PET and CSF in an autopsy-confirmed cohort.Annals of clinical and translational neurology · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary diffuse leukoencephalopathy with spheroid (HDLS) is an autosomal dominant white matter disease characterized by adult-onset cognitive impairment, behavioral or emotional changes, paresis, Parkinsonism, and seizures. Mutations in the gene encoding colony-stimulating factor 1 receptor (CSF1R) have been identified as the cause of HDLS.
methodsDetail medical history, clinical features and brain imaging of a patient with adult-onset leukoencephalopathy, cognitive impairment and motor dysfunction was reviewed and next generation sequencing was performed. An extensive literature research was then performed to identify all patients with HDLS previously reported. The clinical characteristics, brain imaging and genetic features of patients with HDLS were reviewed.
resultsA novel CSF1R mutation, c.1952G>A p.G651E was identified in the patient. Extensive review showed that HDLS typically presents with broad phenotypic variability. The most common symptoms of HDLS were cognitive impairment, followed by psychiatric symptoms, Parkinsonism, gait disorder, and dysphagia. The most common brain imaging findings of HDLS were bilateral white matter lesion, mostly around the ventricles, frontal lobe, and parietal lobe. Calcifications in white matter on CT, cerebral atrophy and thinning of corpus callosum were also common features. Although HDLS demonstrates an autosomal dominant pattern, sporadic cases are not uncommon.
conclusionsEarly recognition of clinical and neuroradiographical characteristics of HDLS is key for the correct diagnosis of the disease.
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