A Standardised Protocol for Blood and Cerebrospinal Fluid Collection and Processing for Biomarker Research in Ataxia

Overview

Journal Neuropathol Appl Neurobiol

Specialty Neurology

Date 2023 Feb 17

PMID 36798010

Authors

Magda M Santana

Laetitia S Gaspar

Maria M Pinto

Patrick Silva

Diana Adao

Dina Pereira

Joana Afonso Ribeiro

Ines Cunha

Jeannette Huebener-Schmid

Mafalda Raposo

Ana F Ferreira

Jennifer Faber

Sandra Kuhs

Hector Garcia-Moreno

Kathrin Reetz

Andreas Thieme

Jon Infante

Bart P C van de Warrenburg

Paola Giunti

Olaf Riess

Ludger Schols

Manuela Lima

Thomas Klockgether

Cristina Januario

Luis Pereira de Almeida

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Elter T, Sturm D, Santana M, Schaprian T, Raposo M, Melo A J Neurol. 2024; 272(1):54.

PMID: 39666145 PMC: 11638412. DOI: 10.1007/s00415-024-12829-9.

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

Santana M, Gaspar L, Pinto M, Silva P, Adao D, Pereira D Neuropathol Appl Neurobiol. 2023; 49(2):e12892.

PMID: 36798010 PMC: 10947376. DOI: 10.1111/nan.12892.

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