Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3

Background: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease-related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity. Objective: The objective of this study was to...

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Autores: Faber, Jennifer, Schaprian, Tamara, Berkan, Koyak, Reetz, Kathrin, França, Marcondes Cavalcante, Rezende, Thiago Junqueira Ribeiro de, Jiang Hong, Weihua Liao, Warrenburg, Bart van de, Gaalen, Judith van, Durr, Alexandra, Mochel, Fanny, Giunti, Paola, Garcia-Moreno, Hector, Schoels, Ludger, Hengel, Holger, Synofzik, Matthis, Bender, Benjamin, Oz, Gulin, Infante Ceberio, Jon|||0000-0003-4025-4606
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universidad de Cantabria (UC)
Repositorio:UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:inglés
OAI Identifier:oai:repositorio.unican.es:10902/24040
Acceso en línea:http://hdl.handle.net/10902/24040
Access Level:acceso abierto
Palabra clave:Spinocerebellar ataxia
MRI
Volumetry
Biomarker
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spelling Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3Faber, JenniferSchaprian, TamaraBerkan, KoyakReetz, KathrinFrança, Marcondes CavalcanteRezende, Thiago Junqueira Ribeiro deJiang HongWeihua LiaoWarrenburg, Bart van deGaalen, Judith vanDurr, AlexandraMochel, FannyGiunti, PaolaGarcia-Moreno, HectorSchoels, LudgerHengel, HolgerSynofzik, MatthisBender, BenjaminOz, GulinInfante Ceberio, Jon|||0000-0003-4025-4606Spinocerebellar ataxiaMRIVolumetryBiomarkerBackground: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease-related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity. Objective: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease. Methods: We applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of 210 ataxic and 48 preataxic spinocerebellar ataxia type 3 mutation carriers and 63 healthy controls. In addition, cervical cord cross-sectional areas were determined at 2 levels. Results: The metrics of cervical spinal cord segments C3 and C2, medulla oblongata, pons, and pallidum, and the cerebellar anterior lobe were reduced in preataxic mutation carriers compared with controls. Those of cervical spinal cord segments C2 and C3, medulla oblongata, pons, midbrain, cerebellar lobules crus II and X, cerebellar white matter, and pallidum were reduced in ataxic compared with nonataxic carriers. Of all metrics studied, pontine volume showed the steepest decline across the disease course. It covaried with ataxia severity, CAG repeat length, and age. The multivariate model derived from this analysis explained 46.33% of the variance of pontine volume. Conclusion: Regional brain and spinal cord tissue loss in spinocerebellar ataxia type 3 starts before ataxia onset. Pontine volume appears to be the most promising imaging biomarker candidate for interventional trials that aim at slowing the progression of spinocerebellar ataxia type 3.Funding agencies: This publication is an outcome of ESMI, an EU Joint Programme - Neurodegenerative Disease Research (JPND) Project (see www.jpnd.eu). The project is supported under the aegis of JPND through the following funding organizations: Germany, Federal Ministry of Education and Research (BMBF; funding codes 01ED1602A/B); Netherlands, The Netherlands Organisation for Health Research and Development; Portugal, Foundation for Science and Technology and Regional Fund for Science and Technology of the Azores; United Kingdom, Medical Research Council. This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement 643417. At the US sites this work was in part supported y the National Ataxia Foundation and the National Institute of Neurological Disorders and Stroke (NINDS) grant R01 NS080816. The Center for Magnetic Resonance Research is supported by the National Institute of Biomedical Imaging and Bioengineering (NIBIB) grant P41 EB027061, and the Institutional Center Cores for Advanced Neuroimaging award P30 NS076408 and S10 OD017974 grant.John Wiley and Sons Inc.Universidad de Cantabria20212021-10-01journal articlehttp://purl.org/coar/resource_type/c_6501NAhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43info:eu-repo/semantics/articlehttp://hdl.handle.net/10902/24040Movement Disorders, 2021, 36(10), 2021reponame:UCrea Repositorio Abierto de la Universidad de Cantabriainstname:Universidad de Cantabria (UC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositorio.unican.es:10902/240402026-06-02T12:39:31Z
dc.title.none.fl_str_mv Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
title Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
spellingShingle Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
Faber, Jennifer
Spinocerebellar ataxia
MRI
Volumetry
Biomarker
title_short Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
title_full Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
title_fullStr Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
title_full_unstemmed Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
title_sort Regional brain and spinal cord volume Loss in spinocerebellar ataxia type 3
dc.creator.none.fl_str_mv Faber, Jennifer
Schaprian, Tamara
Berkan, Koyak
Reetz, Kathrin
França, Marcondes Cavalcante
Rezende, Thiago Junqueira Ribeiro de
Jiang Hong
Weihua Liao
Warrenburg, Bart van de
Gaalen, Judith van
Durr, Alexandra
Mochel, Fanny
Giunti, Paola
Garcia-Moreno, Hector
Schoels, Ludger
Hengel, Holger
Synofzik, Matthis
Bender, Benjamin
Oz, Gulin
Infante Ceberio, Jon|||0000-0003-4025-4606
author Faber, Jennifer
author_facet Faber, Jennifer
Schaprian, Tamara
Berkan, Koyak
Reetz, Kathrin
França, Marcondes Cavalcante
Rezende, Thiago Junqueira Ribeiro de
Jiang Hong
Weihua Liao
Warrenburg, Bart van de
Gaalen, Judith van
Durr, Alexandra
Mochel, Fanny
Giunti, Paola
Garcia-Moreno, Hector
Schoels, Ludger
Hengel, Holger
Synofzik, Matthis
Bender, Benjamin
Oz, Gulin
Infante Ceberio, Jon|||0000-0003-4025-4606
author_role author
author2 Schaprian, Tamara
Berkan, Koyak
Reetz, Kathrin
França, Marcondes Cavalcante
Rezende, Thiago Junqueira Ribeiro de
Jiang Hong
Weihua Liao
Warrenburg, Bart van de
Gaalen, Judith van
Durr, Alexandra
Mochel, Fanny
Giunti, Paola
Garcia-Moreno, Hector
Schoels, Ludger
Hengel, Holger
Synofzik, Matthis
Bender, Benjamin
Oz, Gulin
Infante Ceberio, Jon|||0000-0003-4025-4606
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidad de Cantabria
dc.subject.none.fl_str_mv Spinocerebellar ataxia
MRI
Volumetry
Biomarker
topic Spinocerebellar ataxia
MRI
Volumetry
Biomarker
description Background: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease-related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity. Objective: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease. Methods: We applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of 210 ataxic and 48 preataxic spinocerebellar ataxia type 3 mutation carriers and 63 healthy controls. In addition, cervical cord cross-sectional areas were determined at 2 levels. Results: The metrics of cervical spinal cord segments C3 and C2, medulla oblongata, pons, and pallidum, and the cerebellar anterior lobe were reduced in preataxic mutation carriers compared with controls. Those of cervical spinal cord segments C2 and C3, medulla oblongata, pons, midbrain, cerebellar lobules crus II and X, cerebellar white matter, and pallidum were reduced in ataxic compared with nonataxic carriers. Of all metrics studied, pontine volume showed the steepest decline across the disease course. It covaried with ataxia severity, CAG repeat length, and age. The multivariate model derived from this analysis explained 46.33% of the variance of pontine volume. Conclusion: Regional brain and spinal cord tissue loss in spinocerebellar ataxia type 3 starts before ataxia onset. Pontine volume appears to be the most promising imaging biomarker candidate for interventional trials that aim at slowing the progression of spinocerebellar ataxia type 3.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021-10-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
NA
http://purl.org/coar/version/c_be7fb7dd8ff6fe43
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/10902/24040
url http://hdl.handle.net/10902/24040
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv John Wiley and Sons Inc.
publisher.none.fl_str_mv John Wiley and Sons Inc.
dc.source.none.fl_str_mv Movement Disorders, 2021, 36(10), 2021
reponame:UCrea Repositorio Abierto de la Universidad de Cantabria
instname:Universidad de Cantabria (UC)
instname_str Universidad de Cantabria (UC)
reponame_str UCrea Repositorio Abierto de la Universidad de Cantabria
collection UCrea Repositorio Abierto de la Universidad de Cantabria
repository.name.fl_str_mv
repository.mail.fl_str_mv
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