TY  - JOUR
AU  - Reetz, K.
AU  - Kleinman, A.
AU  - Klein, C.
AU  - Lencer, R.
AU  - Zuehlke, C.
AU  - Brockmann, K.
AU  - Rolfs, A.
AU  - Binkofski, F.
TI  - CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study
JO  - PLoS one
VL  - 6
SN  - 1932-6203
CY  - Lawrence, Kan.
PB  - PLoS
M1  - PreJuSER-20071
SP  - e15125
PY  - 2011
N1  - 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.
AB  - 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.
KW  - Adult
KW  - Age of Onset
KW  - Atrophy: genetics
KW  - Atrophy: metabolism
KW  - Brain: pathology
KW  - Case-Control Studies
KW  - Cerebellum: pathology
KW  - Disease Progression
KW  - Female
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Nerve Degeneration: genetics
KW  - Spinocerebellar Ataxias: genetics
KW  - Spinocerebellar Ataxias: pathology
KW  - Trinucleotide Repeats
KW  - J (WoSType)
LB  - PUB:(DE-HGF)16
C6  - pmid:21311576
C2  - pmc:PMC3023761
UR  - <Go to ISI:>//WOS:000286520600008
DO  - DOI:10.1371/journal.pone.0015125
UR  - https://juser.fz-juelich.de/record/20071
ER  -