CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

<h4>Background</h4>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).<h4>Methodology/principal findings</h4>To determine whether specific structu...

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Autores principales:	Kathrin Reetz, Alexandra Kleiman, Christine Klein, Rebekka Lencer, Christine Zuehlke, Kathrin Brockmann, Arndt Rolfs, Ferdinand Binkofski
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/77ecb170807b4d0b9f936dfca40d0f6e
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spelling	oai:doaj.org-article:77ecb170807b4d0b9f936dfca40d0f6e2021-11-18T07:00:14ZCAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.1932-620310.1371/journal.pone.0015125https://doaj.org/article/77ecb170807b4d0b9f936dfca40d0f6e2011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21311576/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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).<h4>Methodology/principal findings</h4>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.<h4>Conclusions</h4>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.Kathrin ReetzAlexandra KleimanChristine KleinRebekka LencerChristine ZuehlkeKathrin BrockmannArndt RolfsFerdinand BinkofskiPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 1, p e15125 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Kathrin Reetz Alexandra Kleiman Christine Klein Rebekka Lencer Christine Zuehlke Kathrin Brockmann Arndt Rolfs Ferdinand Binkofski CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.
description	<h4>Background</h4>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).<h4>Methodology/principal findings</h4>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.<h4>Conclusions</h4>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.
format	article
author	Kathrin Reetz Alexandra Kleiman Christine Klein Rebekka Lencer Christine Zuehlke Kathrin Brockmann Arndt Rolfs Ferdinand Binkofski
author_facet	Kathrin Reetz Alexandra Kleiman Christine Klein Rebekka Lencer Christine Zuehlke Kathrin Brockmann Arndt Rolfs Ferdinand Binkofski
author_sort	Kathrin Reetz
title	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_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_sort	cag repeats determine brain atrophy in spinocerebellar ataxia 17: a vbm study.
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/77ecb170807b4d0b9f936dfca40d0f6e
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CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.

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