% IMPORTANT: The following is UTF-8 encoded. This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.
@ARTICLE{Reetz:20071,
author = {Reetz, K. and Kleinman, A. and Klein, C. and Lencer, R. and
Zuehlke, C. and Brockmann, K. and Rolfs, A. and Binkofski,
F.},
title = {{CAG} repeats determine brain atrophy in spinocerebellar
ataxia 17: a {VBM} study},
journal = {PLoS one},
volume = {6},
issn = {1932-6203},
address = {Lawrence, Kan.},
publisher = {PLoS},
reportid = {PreJuSER-20071},
pages = {e15125},
year = {2011},
note = {KR 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.},
abstract = {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).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.},
keywords = {Adult / Age of Onset / Atrophy: genetics / Atrophy:
metabolism / Brain: pathology / Case-Control Studies /
Cerebellum: pathology / Disease Progression / Female /
Humans / Magnetic Resonance Imaging / Male / Middle Aged /
Nerve Degeneration: genetics / Spinocerebellar Ataxias:
genetics / Spinocerebellar Ataxias: pathology /
Trinucleotide Repeats / J (WoSType)},
cin = {INM-4},
ddc = {500},
cid = {I:(DE-Juel1)INM-4-20090406},
pnm = {Neurowissenschaften},
pid = {G:(DE-Juel1)FUEK255},
shelfmark = {Biology},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:21311576},
pmc = {pmc:PMC3023761},
UT = {WOS:000286520600008},
doi = {10.1371/journal.pone.0015125},
url = {https://juser.fz-juelich.de/record/20071},
}