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• W2091320682 abstract "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." @default.
• W2091320682 created "2016-06-24" @default.
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• W2091320682 date "2011-01-19" @default.
• W2091320682 modified "2023-09-27" @default.
• W2091320682 title "CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study" @default.
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• W2091320682 doi "https://doi.org/10.1371/journal.pone.0015125" @default.
• W2091320682 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3023761" @default.
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