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CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study

BACKGROUND: Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17). METHODOLOGY/PRINCIPAL FINDINGS: To determine whether specific structural brain degeneration and rate of di...

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Autores principales: Reetz, Kathrin, Kleiman, Alexandra, Klein, Christine, Lencer, Rebekka, Zuehlke, Christine, Brockmann, Kathrin, Rolfs, Arndt, Binkofski, Ferdinand
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3023761/
https://www.ncbi.nlm.nih.gov/pubmed/21311576
http://dx.doi.org/10.1371/journal.pone.0015125
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author Reetz, Kathrin
Kleiman, Alexandra
Klein, Christine
Lencer, Rebekka
Zuehlke, Christine
Brockmann, Kathrin
Rolfs, Arndt
Binkofski, Ferdinand
author_facet Reetz, Kathrin
Kleiman, Alexandra
Klein, Christine
Lencer, Rebekka
Zuehlke, Christine
Brockmann, Kathrin
Rolfs, Arndt
Binkofski, Ferdinand
author_sort Reetz, Kathrin
collection PubMed
description BACKGROUND: Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17). METHODOLOGY/PRINCIPAL FINDINGS: To determine whether specific structural brain degeneration and rate of disease progression in SCA17 might be associated with the CAG repeat size, observer-independent voxel-based morphometry was applied to high-resolution magnetic resonance images of 16 patients with SCA17 and 16 age-matched healthy controls. The main finding contrasting SCA17 patients with healthy controls demonstrated atrophy in the cerebellum bilaterally. Multiple regression analyses with available genetic data and also post-hoc correlations revealed an inverse relationship again with cerebellar atrophy. Moreover, we found an inverse relationship between the CAG repeat length and rate of disease progression. CONCLUSIONS: Our results highlight the fundamental role of the cerebellum in this neurodegenerative disease and support the genotype-phenotype relationship in SCA17 patients. Genetic factors may determine individual susceptibility to neurodegeneration and rate of disease progression.
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spelling pubmed-30237612011-02-10 CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study Reetz, Kathrin Kleiman, Alexandra Klein, Christine Lencer, Rebekka Zuehlke, Christine Brockmann, Kathrin Rolfs, Arndt Binkofski, Ferdinand PLoS One Research Article BACKGROUND: Abnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17). METHODOLOGY/PRINCIPAL FINDINGS: To determine whether specific structural brain degeneration and rate of disease progression in SCA17 might be associated with the CAG repeat size, observer-independent voxel-based morphometry was applied to high-resolution magnetic resonance images of 16 patients with SCA17 and 16 age-matched healthy controls. The main finding contrasting SCA17 patients with healthy controls demonstrated atrophy in the cerebellum bilaterally. Multiple regression analyses with available genetic data and also post-hoc correlations revealed an inverse relationship again with cerebellar atrophy. Moreover, we found an inverse relationship between the CAG repeat length and rate of disease progression. CONCLUSIONS: Our results highlight the fundamental role of the cerebellum in this neurodegenerative disease and support the genotype-phenotype relationship in SCA17 patients. Genetic factors may determine individual susceptibility to neurodegeneration and rate of disease progression. Public Library of Science 2011-01-19 /pmc/articles/PMC3023761/ /pubmed/21311576 http://dx.doi.org/10.1371/journal.pone.0015125 Text en Reetz et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Reetz, Kathrin
Kleiman, Alexandra
Klein, Christine
Lencer, Rebekka
Zuehlke, Christine
Brockmann, Kathrin
Rolfs, Arndt
Binkofski, Ferdinand
CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study
title CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study
title_full CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study
title_fullStr CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study
title_full_unstemmed CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study
title_short CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study
title_sort cag repeats determine brain atrophy in spinocerebellar ataxia 17: a vbm study
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3023761/
https://www.ncbi.nlm.nih.gov/pubmed/21311576
http://dx.doi.org/10.1371/journal.pone.0015125
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