Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3
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Background and purpose: Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require biomarkers for use as outcome measures. Methods: 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‐tau 181). A transgenic SCA3 mouse model (MJDTg) was used to measure cerebellar t‐tau levels. Results: Plasma t‐tau levels were higher in mutation carriers below the age of 50 compared to controls, and the Inventory of Non‐Ataxia Signs was associated with t‐tau in ataxic patients (p = 0.004). Pre‐ataxic carriers showed higher cerebrospinal fluid t‐tau and p‐tau 181 concentrations compared to ataxic patients (p = 0.025 and p = 0.014, respectively). Cerebellar t‐tau was elevated in MJDTg mice compared to wild‐type (p = 0.033) only in the early stages of the disease. GFAP and UCHL1 did not show higher levels in mutation carriers compared to controls. Plasma NfL concentrations were higher in mutation carriers compared to controls, and differences were greater for younger carriers. The Scale for the Assessment and Rating of Ataxia was the strongest predictor of NfL in ataxic patients (p < 0.001). Conclusion: Our results suggest that tau might be a marker of early disease stages in SCA3. NfL can discriminate mutation carriers from controls and is associated with different clinical variables. Longitudinal studies are required to confirm their potential role as biomarkers in clinical trials.
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Plasma tau has emerged as a marker of neuronal distress and appears in several neurodegenerative diseases, including preclinical AD.
“Like NfL (neurofilament light chain), plasma tau has emerged as a marker of neuronal distress. It appears in several different neurodegenerative diseases, including importantly even preclinical AD patients (76–85).”
From All the Tau We Cannot See (2023) · cites this paper as [79]
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- Authors
- Garcia‐Moreno, H., Prudencio, M., Thomas‐Black, G., Solanky, N., Jansen‐West, K. R., Hanna AL‐Shaikh, R., Heslegrave, A., Zetterberg, H., Santana, M. M., Pereira de Almeida, L., Vasconcelos‐Ferreira, A., Januário, C., Infante, J., Faber, J., Klockgether, T., Reetz, K., Raposo, M., Ferreira, A. F., Lima, M., Schöls, L., Synofzik, M., Hübener‐Schmid, J., Puschmann, A., Gorcenco, S., Wszolek, Z. K., Petrucelli, L., & Giunti, P.
- Affiliations
- Ataxia Centre Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology University College London London UK
- Mayo Clinic (US)
- University College London Hospitals NHS Foundation Trust (GB)
- Department of Neurology Mayo Clinic Jacksonville Florida USA
- UK Dementia Research Institute (GB)
- Sahlgrenska University Hospital (SE)
- Centro de Neurociências e Biologia Celular (PT)
- Center for Neuroscience and Cell Biology University of Coimbra Coimbra Portugal
- Unidade Local de Saúde de Coimbra (PT)
- Universidad de Cantabria (ES)
- University Hospital Bonn (DE)
- Forschungszentrum Jülich (DE)
- Universidade dos Açores (PT)
- German Center for Neurodegenerative Diseases (DE)
- University of Tübingen (DE)
- Lund University (SE)
- Corresponding author
- Petrucelli, Leonard
- Giunti, Paola
- ORCID
- Garcia‐Moreno, Hector
- Prudencio, Mercedes
- Thomas‐Black, Gilbert
- Solanky, Nita
- Jansen‐West, Karen R.
- Hanna AL‐Shaikh, Rana
- Heslegrave, Amanda
- Zetterberg, Henrik
- Santana, Magda M.
- Pereira de Almeida, Luis
- Vasconcelos‐Ferreira, Ana
- Januário, Cristina
- Infante, Jon
- Faber, Jennifer
- Klockgether, Thomas
- Reetz, Kathrin
- Raposo, Mafalda
- Ferreira, Ana F.
- Lima, Manuela
- Schöls, Ludger
- Synofzik, Matthis
- Hübener‐Schmid, Jeannette
- Puschmann, Andreas
- Gorcenco, Sorina
- Wszolek, Zbigniew K.
- Petrucelli, Leonard
- Giunti, Paola
- Venue
- European Journal of Neurology
- Publisher
- Wiley
- Published
- 2022-05-26
- Volume
- 29
- Issue
- 8
- Pages
- 2439-2452
- ISSN
- 1351-5101 (ISSN-L)
- 1468-1331
- PMC
- PMC9543545
- OpenAlex
- W4225106832
- Semantic Scholar
- 07201426421abba85f62cef6ba8177a644439daa
- Cited by
- 49
- References
- 58
- Citations by year
- 2026: 6 · 2025: 13 · 2024: 9 · 2023: 15 · 2022: 5
- FWCI
- 4.63
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- European Journal of Neurology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- DZNE Pub (submittedVersion, other-oa)
- UCrea (University of Cantabria) (submittedVersion, cc-by)
- Funders
- Federal Ministry of Education and Research (01ED1602A/B)
- Medical Research Council (MR/N028767/1)
- Swedish Research Council (2018‐02532)
- European Research Council (681712)
- National Ataxia Foundation
- Deutsche Forschungsgemeinschaft (IRTG 2150, ZUK32/1)
- U.S. Department of Defense (ALSRP AL130125)
- Amyotrophic Lateral Sclerosis Association
- Target ALS Foundation
- Sol Goldman Charitable Trust
- Alzheimer Forschung Initiative e.V. (AFI13812, NL‐18002CB)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Prion Diseases and Protein Misfolding
- Keywords
- spinocerebellar ataxia type 3, tau protein, neurofilament light chain, fluid biomarkers, phosphorylated tau 181, glial fibrillary acidic protein, UCHL1, cerebrospinal fluid, plasma biomarkers, disease staging, clinical trial outcome measures
- MeSH terms
- Animals, Cerebellum, Heterozygote, Humans, Mice, Transgenic, Biomarkers, tau Proteins, Neurofilament Proteins, Machado-Joseph Disease, Mice
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