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Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry

Friedreich's ataxia (FRDA) is a rare genetic disorder leading to degenerative processes. So far, no effective treatment has been found. Therefore, it is important to assist the development of medication with imaging biomarkers reflecting disease status and progress. Ten FRDA patients (mean age...

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Autores principales: Straub, Sina, Mangesius, Stephanie, Emmerich, Julian, Indelicato, Elisabetta, Nachbauer, Wolfgang, Degenhardt, Katja S., Ladd, Mark E., Boesch, Sylvia, Gizewski, Elke R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590084/
https://www.ncbi.nlm.nih.gov/pubmed/32731306
http://dx.doi.org/10.1002/jnr.24701
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author Straub, Sina
Mangesius, Stephanie
Emmerich, Julian
Indelicato, Elisabetta
Nachbauer, Wolfgang
Degenhardt, Katja S.
Ladd, Mark E.
Boesch, Sylvia
Gizewski, Elke R.
author_facet Straub, Sina
Mangesius, Stephanie
Emmerich, Julian
Indelicato, Elisabetta
Nachbauer, Wolfgang
Degenhardt, Katja S.
Ladd, Mark E.
Boesch, Sylvia
Gizewski, Elke R.
author_sort Straub, Sina
collection PubMed
description Friedreich's ataxia (FRDA) is a rare genetic disorder leading to degenerative processes. So far, no effective treatment has been found. Therefore, it is important to assist the development of medication with imaging biomarkers reflecting disease status and progress. Ten FRDA patients (mean age 37 ± 14 years; four female) and 10 age‐ and sex‐matched controls were included. Acquisition of magnetic resonance imaging (MRI) data for quantitative susceptibility mapping, R (1), R (2) relaxometry and diffusion imaging was performed at 7 Tesla. Results of volume of interest (VOI)‐based analyses of the quantitative data were compared with a voxel‐based morphometry (VBM) evaluation. Differences between patients and controls were assessed using the analysis of covariance (ANCOVA; p < 0.01) with age and sex as covariates, effect size of group differences, and correlations with disease characteristics with Spearman correlation coefficient. For the VBM analysis, a statistical threshold of 0.001 for uncorrected and 0.05 for corrected p‐values was used. Statistically significant differences between FRDA patients and controls were found in five out of twelve investigated structures, and statistically significant correlations with disease characteristics were revealed. Moreover, VBM revealed significant white matter atrophy within regions of the brainstem, and the cerebellum. These regions overlapped partially with brain regions for which significant differences between healthy controls and patients were found in the VOI‐based quantitative MRI evaluation. It was shown that two independent analyses provided overlapping results. Moreover, positive results on correlations with disease characteristics were found, indicating that these quantitative MRI parameters could provide more detailed information and assist the search for effective treatments.
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spelling pubmed-75900842020-10-30 Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry Straub, Sina Mangesius, Stephanie Emmerich, Julian Indelicato, Elisabetta Nachbauer, Wolfgang Degenhardt, Katja S. Ladd, Mark E. Boesch, Sylvia Gizewski, Elke R. J Neurosci Res Research Articles Friedreich's ataxia (FRDA) is a rare genetic disorder leading to degenerative processes. So far, no effective treatment has been found. Therefore, it is important to assist the development of medication with imaging biomarkers reflecting disease status and progress. Ten FRDA patients (mean age 37 ± 14 years; four female) and 10 age‐ and sex‐matched controls were included. Acquisition of magnetic resonance imaging (MRI) data for quantitative susceptibility mapping, R (1), R (2) relaxometry and diffusion imaging was performed at 7 Tesla. Results of volume of interest (VOI)‐based analyses of the quantitative data were compared with a voxel‐based morphometry (VBM) evaluation. Differences between patients and controls were assessed using the analysis of covariance (ANCOVA; p < 0.01) with age and sex as covariates, effect size of group differences, and correlations with disease characteristics with Spearman correlation coefficient. For the VBM analysis, a statistical threshold of 0.001 for uncorrected and 0.05 for corrected p‐values was used. Statistically significant differences between FRDA patients and controls were found in five out of twelve investigated structures, and statistically significant correlations with disease characteristics were revealed. Moreover, VBM revealed significant white matter atrophy within regions of the brainstem, and the cerebellum. These regions overlapped partially with brain regions for which significant differences between healthy controls and patients were found in the VOI‐based quantitative MRI evaluation. It was shown that two independent analyses provided overlapping results. Moreover, positive results on correlations with disease characteristics were found, indicating that these quantitative MRI parameters could provide more detailed information and assist the search for effective treatments. John Wiley and Sons Inc. 2020-07-30 2020-11 /pmc/articles/PMC7590084/ /pubmed/32731306 http://dx.doi.org/10.1002/jnr.24701 Text en © 2020 The Authors. Journal of Neuroscience Research published by Wiley Periodicals LLC This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Straub, Sina
Mangesius, Stephanie
Emmerich, Julian
Indelicato, Elisabetta
Nachbauer, Wolfgang
Degenhardt, Katja S.
Ladd, Mark E.
Boesch, Sylvia
Gizewski, Elke R.
Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry
title Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry
title_full Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry
title_fullStr Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry
title_full_unstemmed Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry
title_short Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R (2) and R (1) relaxometry
title_sort toward quantitative neuroimaging biomarkers for friedreich's ataxia at 7 tesla: susceptibility mapping, diffusion imaging, r (2) and r (1) relaxometry
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590084/
https://www.ncbi.nlm.nih.gov/pubmed/32731306
http://dx.doi.org/10.1002/jnr.24701
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