Pérez Soriano, AlexandraArnal, MagdalenaBotta Orfila, TeresaGiraldo, Darly M.Fernández, ManelCompta, YaroslauFernández Santiago, RubénEzquerra Trabalón, MarioTartaglia, Gian GaetanoMartí Domènech, Ma. JosepMuñoz García, José Esteban2022-06-212022-06-212020-06-252045-2322https://hdl.handle.net/2445/186868Background: Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C). Objective: To identify novel disease mechanisms we performed a blood transcriptomic study investigating differential gene expression changes and biological process alterations in MSA and its clinical subtypes. Methods: We compared the transcriptome from rigorously gender and age-balanced groups of 10 probable MSA-P, 10 probable MSA-C cases, 10 controls from the Catalan MSA Registry (CMSAR), and 10 Parkinson Disease (PD) patients. Results: Gene set enrichment analyses showed prominent positive enrichment in processes related to immunity and inflammation in all groups, and a negative enrichment in cell differentiation and development of the nervous system in both MSA-P and PD, in contrast to protein translation and processing in MSA-C. Gene set enrichment analysis using expression patterns in different brain regions as a reference also showed distinct results between the different synucleinopathies. Conclusions: In line with the two major phenotypes described in the clinic, our data suggest that gene expression and biological processes might be differentially affected in MSA-P and MSA-C. Future studies using larger sample sizes are warranted to confirm these results.9 p.application/pdfengcc-by (c) Pérez Soriano, Alexandra et al., 2020https://creativecommons.org/licenses/by/4.0/CerebelMalaltia de ParkinsonDiagnòstic diferencialExpressió gènicaCerebellumParkinson's diseaseDifferential diagnosisGene expressioninfo:eu-repo/semantics/article7126532022-06-21info:eu-repo/semantics/openAccess32587362