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As ataxin-3 is ubiquitously expressed, transcriptional alterations in blood may reflect early changes that start before clinical onset and might serve as peripheral biomarkers in clinical and research settings. Our goal was to describe enriched pathways and report dysregulated genes, which can track disease onset, severity or progression in carriers of the ATXN3 mutation (pre-ataxic subjects and patients).<\/jats:p>\n               <jats:p>Global dysregulation patterns were identified by RNA sequencing of blood samples from 40 carriers of ATXN3 mutation and 20 controls and further compared with transcriptomic data from post-mortem cerebellum samples of MJD patients and controls. Ten genes\u2014ABCA1, CEP72, PTGDS, SAFB2, SFSWAP, CCDC88C, SH2B1, LTBP4, MEG3 and TSPOAP1\u2014whose expression in blood was altered in the pre-ataxic stage and simultaneously, correlated with ataxia severity in the overt disease stage, were analysed by quantitative real-time PCR in blood samples from an independent set of 170 SCA3\/MJD subjects and 57 controls.<\/jats:p>\n               <jats:p>Pathway enrichment analysis indicated the G\u03b1i signalling and the oestrogen receptor signalling to be similarly affected in blood and cerebellum. SAFB2, SFSWAP and LTBP4 were consistently dysregulated in pre-ataxic subjects compared to controls, displaying a combined discriminatory ability of 79%. In patients, ataxia severity was associated with higher levels of MEG3 and TSPOAP1.<\/jats:p>\n               <jats:p>We propose expression levels of SAFB2, SFSWAP and LTBP4 as well as MEG3 and TSPOAP1 as stratification markers of SCA3\/MJD progression, deserving further validation in longitudinal studies and in independent cohorts.<\/jats:p>","DOI":"10.1093\/brain\/awad128","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T17:44:45Z","timestamp":1681839885000},"page":"4132-4143","source":"Crossref","is-referenced-by-count":13,"title":["Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6899-0352","authenticated-orcid":false,"given":"Mafalda","family":"Raposo","sequence":"first","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto , 4200-135 Porto , Portugal"},{"name":"Faculdade de Ci\u00eancias e Tecnologia, Universidade dos A\u00e7ores , 9500-321 Ponta Delgada , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4973-0923","authenticated-orcid":false,"given":"Jeannette","family":"H\u00fcbener-Schmid","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of Tu\u0308bingen , 72076 T\u00fcbingen , Germany"},{"name":"Centre for Rare Diseases, University of Tu\u0308bingen , 72072 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana F","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Faculdade de Ci\u00eancias e Tecnologia, Universidade dos A\u00e7ores , 9500-321 Ponta Delgada , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Rosa","family":"Vieira Melo","sequence":"additional","affiliation":[{"name":"Faculdade de Ci\u00eancias e Tecnologia, Universidade dos A\u00e7ores , 9500-321 Ponta Delgada , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Vasconcelos","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Neurologia, Hospital do Divino Esp\u00edrito Santo , 9500-370 Ponta Delgada , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Pires","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Neurologia, Hospital do Santo Esp\u00edrito da Ilha Terceira , 9700-049 Angra do Hero\u00edsmo , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Kay","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica Cl\u00ednica, Hospital D. 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