biostudies-literatureGarcia-Moreno HFundação para a Ciência e a Tecnologia (FCT)German Research FoundationCureSCA3Hertie Academy for Clinical NeuroscienceAlzheimer Forschung Initiative e.V.Mayo Clinic Neuroscience Focused Research TeamDepartment of Health's National Institute for Health Research Biomedical Research Centre's funding schemeMayo Clinic Center for Regenerative MedicineSwedish Research CouncilAmyotrophic Lateral Sclerosis AssociationAlzheimer Drug Discovery Foundation (ADDF)Deutsche ForschungsgemeinschaftAlbertson Parkinson's Research FoundationEuropean Research CouncilALF, SwedenSol Goldman Charitable TrustThe Netherlands Organisation for Health Research and DevelopmentFederal Ministry of Education and ResearchNational Institute for Health Research University College London Hospitals Biomedical Research Centre UCLHRegional Fund for Science and Technology (FRCT), PRO-SCIENTIA program, Azores GovernmentThe Haworth Family Professorship in Neurodegenerative Diseases fundFundo Social Europeu (FSE)SCA-network, SwedenDepartment of DefenseGerman Federal Ministry of Education and ResearchRobert Packard Center for ALS Research at Johns HopkinsNational Ataxia FoundationMayo Clinic FoundationMedical Research CouncilTarget ALS FoundationU.S. Department of DefenseEuropean Union's Horizon 2020 research and innovation programmeRegion Skåne, SwedenDonald G and Jodi P Heeringa FamilySwedish State Support for Clinical ResearchNIH/National Institute of Neurological Disorder and Stroke2439-2452https://www.ebi.ac.uk/biostudies/studies/S-EPMC9543545biostudies-literatureUnknown29(8)<h4>Background and purpose</h4>Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures.<h4>Methods</h4>To evaluate total tau (t-tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCHL1) and neurofilament light-chain (NfL) as fluid biomarkers in SCA3, ATXN3 mutation carriers (n = 143) and controls (n = 172) were clinically assessed, and the plasma concentrations of the four proteins were analysed on the Simoa HD-1 platform. Eleven ATXN3 mutation carrier cerebrospinal fluid samples were analysed for t-tau and phosphorylated tau (p-tau¹⁸¹ ). A transgenic SCA3 mouse model (MJDTg) was used to measure cerebellar t-tau levels.<h4>Results</h4>Plasma t-tau levels were higher in mutation carriers belowEuropean journal of neurologyTau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.PMC954354501DN18022NL‐18002CB2018-02532ZUK32/1R01NS0886892018‐0253201ED1602A/BR21NS084528P01NS084974R35NS097273MR/N028767/101GQ1402IRTG 2150AFI13812ALSRP AL130125ALFGBG-720931681712NL-18002CB201809-2016862643417Solanky NInfante JVasconcelos-Ferreira APrudencio MHeslegrave AZetterberg HGiunti PWszolek ZKGarcia-Moreno HSynofzik MRaposo MPetrucelli LKlockgether TFerreira AFPuschmann AThomas-Black GHanna Al-Shaikh RGorcenco SFaber JSantana MMLima MJanuario CHubener-Schmid JJansen-West KRSchols LPereira de Almeida LReetz KfalseTau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.<h4>Background and purpose</h4>Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures.<h4>Methods</h4>To evaluate total tau (t-tau), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCHL1) and neurofilament light-chain (NfL) as fluid biomarkers in SCA3, ATXN3 mutation carriers (n = 143) and controls (n = 172) were clinically assessed, and the plasma concentrations of the four proteins were analysed on the Simoa HD-1 platform. Eleven ATXN3 mutation carrier cerebrospinal fluid samples were analysed for t-tau and phosphorylated tau (p-tau¹⁸¹ ). A transgenic SCA3 mouse model (MJDTg) was used to measure cerebellar t-tau levels.<h4>Results</h4>Plasma t-tau levels were higher in mutation carriers below2022-01-01T00:00:00Z2022 Aug2025-04-22T12:07:51.058Z2025-04-06T00:12:20.751ZS-EPMC95435453547842610.1111/ene.15373