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3. A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

Author

Santana, M.M., Gaspar, L.S., Pinto, M.M., Silva, P., Adão, D., Pereira, D., Ribeiro, J.A., Cunha, I., Huebener-Schmid, J., Raposo, M., Ferreira, A.F., Faber, J., Kuhs, S., Garcia-Moreno, H., Reetz, K., Thieme, A., Infante, J., Warrenburg, B.P.C. van de, Giunti, P., Riess, O., Schöls, L., Lima, M., Klockgether, T., Januário, C., Almeida, L.P. de, Santana, M.M., Gaspar, L.S., Pinto, M.M., Silva, P., Adão, D., Pereira, D., Ribeiro, J.A., Cunha, I., Huebener-Schmid, J., Raposo, M., Ferreira, A.F., Faber, J., Kuhs, S., Garcia-Moreno, H., Reetz, K., Thieme, A., Infante, J., Warrenburg, B.P.C. van de, Giunti, P., Riess, O., Schöls, L., Lima, M., Klockgether, T., Januário, C., and Almeida, L.P. de

Abstract

01 april 2023, Item does not contain fulltext, The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable future interventional studies. As biosample collection and processing variables significantly impact the outcomes of biomarkers studies, biosampling procedures standardisation was done previously to study visit initiation. Here, we describe the ESMI consensus biosampling protocol, developed within the scope of ESMI, that ultimately might be translated to other neurodegenerative disorders, particularly ataxias, being the first step to protocol harmonisation in the field.

Published
2023

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