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

Kathrin Reetz, Alexandra Kleinman, Christine Klein, Rebekka Lencer, Christine Zuehlke, Kathrin Brockmann, Arndt Rolfs, Ferdinand Binkofski*

*Korrespondierende/r Autor/-in für diese Arbeit
13 Zitate (Scopus)

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.

OriginalspracheEnglisch
Aufsatznummere15125
ZeitschriftPLoS ONE
Jahrgang6
Ausgabenummer1
ISSN1553-7390
DOIs
PublikationsstatusVeröffentlicht - 03.02.2011

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