ArticleTranslational neurodegeneration2019
Clinicopathologic characterization and abnormal autophagy of
Article in Translational neurodegeneration, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 39 citations in OpenAlex.
- Advancing Parkinson's diagnosis: seed amplification assay for α-synuclein detection in minimally invasive samples.Molecular and cellular biochemistry · 2025Review
- Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.Journal of molecular neuroscience : MN · 2025Article
- Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).Journal of neurology · 2024Article
- Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.CNS neuroscience & therapeutics · 2024Article
- An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.Molecular neurodegeneration · 2024Article
- Article
- 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 Genetic Leukoencephalopathies With Movement Disorders.Journal of movement disorders · 2023Article
- Differential regulation of microglial states by colony stimulating factors.Frontiers in cellular neuroscience · 2023Review
- Neuropsychological profile of CSF1R-related leukoencephalopathy.Frontiers in neurology · 2023Article
- Neuropathologic scales of cerebrovascular disease associated with diffusion changes on MRI.Acta neuropathologica · 2022Article
- Modeling CSF-1 receptor deficiency diseases - how close are we?The FEBS journal · 2022Review
- Altered intrinsic brain activity in patients with CSF1R-related leukoencephalopathy.Brain imaging and behavior · 2022Article
- Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.Acta neuropathologica · 2022Article
- The Primary Microglial Leukodystrophies: A Review.International journal of molecular sciences · 2022Review
- Two Novel Intronic Mutations in theFrontiers in cell and developmental biology · 2022Article
- Quantitative LC-MS/MS uncovers the regulatory role of autophagy in immune thrombocytopenia.Cancer cell international · 2021Article
- Aberrant miRNA-mRNA regulatory network in polycystic ovary syndrome is associated with markers of insulin sensitivity and inflammation.Annals of translational medicine · 2021Article
- Microglial dyshomeostasis drives perineuronal net and synaptic loss in a CSF1RScience advances · 2021Article
- Three novel mutations in Chinese patients withAnnals of translational medicine · 2021Article
Corrections and comments
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Authors and funding
24 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background
methodsIn order to investigate clinical and pathological characteristics of patients with
resultsClinical and neuroimaging characteristics were summarized. The average age at onset was 35.9 ± 6.4 years (range 24-46 years old). Younger age of onset was observed in female than male (34.2 vs. 39.2 years). The most common initial symptoms were speech dysfunction, cognitive decline and parkinsonian symptoms. One patient also had marked peripheral neuropathy. Brain biopsy of two cases showed typical pathological changes, including myelin loss, axonal spheroids, phosphorylated neurofilament and activated macrophages. Electron microscopy disclosed increased mitochondrial vacuolation and disorganized neurofilaments in ballooned axons. A total of 7 pathogenic variants (4 novel, 3 documented) were identified with autophosphorylation deficiency, among which c.2342C > T remained partial function of autophosphorylation. Western blotting disclosed the significantly lower level of c.2026C > T (p.R676*) than wild type. The level of microtubule associated protein 1 light chain 3-II (LC3-II), a classical marker of autophagy, was significantly lower in mutants expressed cells than wild type group by western blotting and immunofluorescence staining.
conclusionsOur findings support the loss-of-function and haploinsufficiency hypothesis in pathogenesis. Autophagy abnormality may play a role in the disease. Repairing or promoting the phosphorylation level of mutant CSF1R may shed light on therapeutic targets in the future. However, whether peripheral polyneuropathy potentially belongs to
trial registrationChiCTR, ChiCTR1800015295. Registered 21 March 2018.
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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.