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000020071 0247_ $$2DOI$$a10.1371/journal.pone.0015125
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000020071 084__ $$2WoS$$aBiology
000020071 1001_ $$0P:(DE-Juel1)VDB99272$$aReetz, K.$$b0$$uFZJ
000020071 245__ $$aCAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study
000020071 260__ $$aLawrence, Kan.$$bPLoS$$c2011
000020071 300__ $$ae15125
000020071 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article
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000020071 500__ $$3POF3_Assignment on 2016-02-29
000020071 500__ $$aKR was funded by the DFG Translational Brain Research in Psychiatry and Neurology (DFG ZUK32/1). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
000020071 520__ $$aAbnormal repeat length has been associated with an earlier age of onset and more severe disease progression in the rare neurodegenerative disorder spinocerebellar ataxia 17 (SCA17).To determine whether specific structural brain degeneration and rate of disease progression in SCA17 might be associated with the CAG repeat size, observer-independent voxel-based morphometry was applied to high-resolution magnetic resonance images of 16 patients with SCA17 and 16 age-matched healthy controls. The main finding contrasting SCA17 patients with healthy controls demonstrated atrophy in the cerebellum bilaterally. Multiple regression analyses with available genetic data and also post-hoc correlations revealed an inverse relationship again with cerebellar atrophy. Moreover, we found an inverse relationship between the CAG repeat length and rate of disease progression.Our results highlight the fundamental role of the cerebellum in this neurodegenerative disease and support the genotype-phenotype relationship in SCA17 patients. Genetic factors may determine individual susceptibility to neurodegeneration and rate of disease progression.
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000020071 650_2 $$2MeSH$$aAdult
000020071 650_2 $$2MeSH$$aAge of Onset
000020071 650_2 $$2MeSH$$aAtrophy: genetics
000020071 650_2 $$2MeSH$$aAtrophy: metabolism
000020071 650_2 $$2MeSH$$aBrain: pathology
000020071 650_2 $$2MeSH$$aCase-Control Studies
000020071 650_2 $$2MeSH$$aCerebellum: pathology
000020071 650_2 $$2MeSH$$aDisease Progression
000020071 650_2 $$2MeSH$$aFemale
000020071 650_2 $$2MeSH$$aHumans
000020071 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000020071 650_2 $$2MeSH$$aMale
000020071 650_2 $$2MeSH$$aMiddle Aged
000020071 650_2 $$2MeSH$$aNerve Degeneration: genetics
000020071 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000020071 650_2 $$2MeSH$$aSpinocerebellar Ataxias: pathology
000020071 650_2 $$2MeSH$$aTrinucleotide Repeats
000020071 650_7 $$2WoSType$$aJ
000020071 7001_ $$0P:(DE-HGF)0$$aKleinman, A.$$b1
000020071 7001_ $$0P:(DE-HGF)0$$aKlein, C.$$b2
000020071 7001_ $$0P:(DE-HGF)0$$aLencer, R.$$b3
000020071 7001_ $$0P:(DE-HGF)0$$aZuehlke, C.$$b4
000020071 7001_ $$0P:(DE-HGF)0$$aBrockmann, K.$$b5
000020071 7001_ $$0P:(DE-HGF)0$$aRolfs, A.$$b6
000020071 7001_ $$0P:(DE-Juel1)VDB112$$aBinkofski, F.$$b7$$uFZJ
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000020071 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3023761
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