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PLoS One. 2011 Jan 19;6(1):e15125. doi: 10.1371/journal.pone.0015125.

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

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1
Department of Neurology, RWTH Aachen University, Aachen, Germany.

Erratum in

  • PLoS One. 2011;6(1). doi: 10.1371/annotation/e30b739b-114e-445a-b07b-7e2a8efa2668.

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.

PMID:
21311576
PMCID:
PMC3023761
DOI:
10.1371/journal.pone.0015125
[Indexed for MEDLINE]
Free PMC Article
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