ArticleActa neuropathologica communications2020
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease.
Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 35 citations in OpenAlex.
- Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.Brain : a journal of neurology · 2026Article
- Integrated quantitative susceptibility mapping and radiomics for multiple system atrophy subtypes classification.Neuroradiology · 2026Article
- Astrocytic FABP5 drives non-cell-autonomous oligodendrocyte injury in multiple system atrophy by promoting TNF signaling and ferroptotic stress.Redox biology · 2026Article
- Transcriptomic Analysis and Multiple Machine Learning Approaches Identify ZDHHC20 and Its Highly Correlated Gene AK5 as Biomarkers in Multiple System Atrophy.Journal of molecular neuroscience : MN · 2026Article
- Cross-disease genetic and epigenetic architecture of thebioRxiv : the preprint server for biology · 2026Article
- Review
- Anti-TLR2 immunotherapy modulates neuron-to-oligodendrocyte propagation of α-synuclein in mouse and human models.Nature communications · 2026Article
- α-synuclein triggers NCOA4-FTH1-mediated ferroptosis of oligodendrocyte in multiple system atrophy.Acta neuropathologica · 2026Article
- Distinct spatial transcriptomic patterns of substantia Nigra in Parkinson disease and Parkinsonian subtype of multiple system atrophy.Acta neuropathologica communications · 2025Article
- Alpha synuclein-mediated cytoskeletal dysfunction impairs myelination in human oligodendrocytes.Acta neuropathologica · 2025Article
- DNA methylation patterns in the frontal lobe white matter of multiple system atrophy, Parkinson's disease, and progressive supranuclear palsy: a cross-comparative investigation.Acta neuropathologica · 2024Article
- Morphometric similarity differences in drug-naive Parkinson's disease correlate with transcriptomic signatures.CNS neuroscience & therapeutics · 2024Article
- Gene Expression Profiling of Post Mortem Midbrain of Parkinson's Disease Patients and Healthy Controls.International journal of molecular sciences · 2024Article
- Article
- Multidimensional biomarkers for multiple system atrophy: an update and future directions.Translational neurodegeneration · 2023Review
- The contribution of DNA methylation to the (dys)function of oligodendroglia in neurodegeneration.Acta neuropathologica communications · 2023Review
- Review
- SARS-CoV-2 Infectivity and Neurological Targets in the Brain.Cellular and molecular neurobiology · 2022Article
- Neurodegenerative movement disorders: An epigenetics perspective and promise for the future.Neuropathology and applied neurobiology · 2021Review
- Epigenetic and gene expression changes of neuronal cells from MSA patients are pronounced in enzymes for cell metabolism and calcium-regulated protein kinases.Acta neuropathologica · 2021Article
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Authors and funding
15 authors at 5 institutions in 4 countries.
Funding
Abstract
Multiple system atrophy (MSA) is a rare adult-onset neurodegenerative disease of unknown cause, with no effective therapeutic options, and no cure. Limited work to date has attempted to characterize the transcriptional changes associated with the disease, which presents as either predominating parkinsonian (MSA-P) or cerebellar (MSC-C) symptoms. We report here the results of RNA expression profiling of cerebellar white matter (CWM) tissue from two independent cohorts of MSA patients (n = 66) and healthy controls (HC; n = 66). RNA samples from bulk brain tissue and from oligodendrocytes obtained by laser capture microdissection (LCM) were sequenced. Differentially expressed genes (DEGs) were obtained and were examined before and after stratifying by MSA clinical sub-type.We detected the highest number of DEGs in the MSA-C group (n = 747) while only one gene was noted in MSA-P, highlighting the larger dysregulation of the transcriptome in the MSA-C CWM. Results from both bulk tissue and LCM analysis showed a downregulation of oligodendrocyte genes and an enrichment for myelination processes with a key role noted for the QKI gene. Additionally, we observed a significant upregulation of neuron-specific gene expression in MSA-C and enrichment for synaptic processes. A third cluster of genes was associated with the upregulation of astrocyte and endothelial genes, two cell types with a key role in inflammation processes. Finally, network analysis in MSA-C showed enrichment for β-amyloid related functional classes, including the known Alzheimer's disease (AD) genes, APP and PSEN1.This is the largest RNA profiling study ever conducted on post-mortem brain tissue from MSA patients. We were able to define specific gene expression signatures for MSA-C highlighting the different stages of the complex neurodegenerative cascade of the disease that included alterations in several cell-specific transcriptional programs. Finally, several results suggest a common transcriptional dysregulation between MSA and AD-related genes despite the clinical and neuropathological distinctions between the two diseases.
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