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Tau and neurofilame...
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
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- Garcia-Moreno, Hector (författare)
- University College London
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- Prudencio, Mercedes (författare)
- Mayo Clinic Florida
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- Thomas-Black, Gilbert (författare)
- University College London
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visa fler...
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- Solanky, Nita (författare)
- University College London
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- Jansen-West, Karen R (författare)
- Mayo Clinic Florida
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- Hanna Al-Shaikh, Rana (författare)
- Mayo Clinic Florida
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- Heslegrave, Amanda (författare)
- UK Dementia Research Institute
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- Zetterberg, Henrik (författare)
- Gothenburg University,Göteborgs universitet,University of Gothenburg,Sahlgrenska University Hospital,University College London,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Santana, Magda M (författare)
- University of Coimbra
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- Pereira de Almeida, Luis (författare)
- University of Coimbra
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- Vasconcelos-Ferreira, Ana (författare)
- University of Coimbra
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Januário, Cristina (författare)
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Infante, Jon (författare)
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Faber, Jennifer (författare)
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Klockgether, Thomas (författare)
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Reetz, Kathrin (författare)
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Raposo, Mafalda (författare)
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Ferreira, Ana F (författare)
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Lima, Manuela (författare)
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Schöls, Ludger (författare)
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Synofzik, Matthis (författare)
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Hübener-Schmid, Jeannette (författare)
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- Puschmann, Andreas (författare)
- Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
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- Gorcenco, Sorina (författare)
- Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
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Wszolek, Zbigniew K (författare)
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Petrucelli, Leonard (författare)
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Giunti, Paola (författare)
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(creator_code:org_t)
- 2022-05-26
- 2022
- Engelska.
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Ingår i: European Journal of Neurology. - : Wiley. - 1351-5101 .- 1468-1331. ; 29:8, s. 2439-2452
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http://dx.doi.org/10... (free)
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Abstract
Ämnesord
Stäng
- 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-tau181 ). 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-tau181 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- Animals
- Biomarkers/blood
- Cerebellum/chemistry
- Heterozygote
- Humans
- Machado-Joseph Disease/blood
- Mice
- Mice, Transgenic
- Neurofilament Proteins/blood
- tau Proteins/blood
- biomarkers
- cerebellum
- neurofilaments
- spinocerebellar ataxias
- tau
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Till lärosätets databas
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Garcia-Moreno, H ...
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Prudencio, Merce ...
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Thomas-Black, Gi ...
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Solanky, Nita
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Jansen-West, Kar ...
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Hanna Al-Shaikh, ...
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visa fler...
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Heslegrave, Aman ...
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Zetterberg, Henr ...
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Santana, Magda M
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Pereira de Almei ...
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Vasconcelos-Ferr ...
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Januário, Cristi ...
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Infante, Jon
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Faber, Jennifer
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Klockgether, Tho ...
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Reetz, Kathrin
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Raposo, Mafalda
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Ferreira, Ana F
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Lima, Manuela
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Schöls, Ludger
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Synofzik, Matthi ...
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Hübener-Schmid, ...
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Puschmann, Andre ...
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Gorcenco, Sorina
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Wszolek, Zbignie ...
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Petrucelli, Leon ...
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Giunti, Paola
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Neurovetenskaper
- Artiklar i publikationen
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European Journal ...
- Av lärosätet
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Lunds universitet
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Göteborgs universitet