Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Dina Pereira, Joana Afonso Ribeiro, Inês 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 Schöls, Manuela Lima, Thomas Klockgether, Cristina Januário, Luís Pereira de Almeida
{"title":"用于共济失调生物标记物研究的血液和脑脊液采集与处理标准化方案。","authors":"Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Dina Pereira, Joana Afonso Ribeiro, Inês 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 Schöls, Manuela Lima, Thomas Klockgether, Cristina Januário, Luís Pereira de Almeida","doi":"10.1111/nan.12892","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 2","pages":"e12892"},"PeriodicalIF":4.0000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10947376/pdf/","citationCount":"0","resultStr":"{\"title\":\"A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.\",\"authors\":\"Magda M Santana, Laetitia S Gaspar, Maria M Pinto, Patrick Silva, Diana Adão, Dina Pereira, Joana Afonso Ribeiro, Inês 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 Schöls, Manuela Lima, Thomas Klockgether, Cristina Januário, Luís Pereira de Almeida\",\"doi\":\"10.1111/nan.12892\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":19151,\"journal\":{\"name\":\"Neuropathology and Applied Neurobiology\",\"volume\":\"49 2\",\"pages\":\"e12892\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10947376/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuropathology and Applied Neurobiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/nan.12892\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuropathology and Applied Neurobiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/nan.12892","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
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.
期刊介绍：
Neuropathology and Applied Neurobiology is an international journal for the publication of original papers, both clinical and experimental, on problems and pathological processes in neuropathology and muscle disease. Established in 1974, this reputable and well respected journal is an international journal sponsored by the British Neuropathological Society, one of the world leading societies for Neuropathology, pioneering research and scientific endeavour with a global membership base. Additionally members of the British Neuropathological Society get 50% off the cost of print colour on acceptance of their article.
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