title: CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study.
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).
  
  
  RESULTS
  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.
authors.affiliation: Department of Neurology, RWTH Aachen University, Aachen, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Reetz
authors.forename: Alexandra
authors.initials: A
authors.lastname: Kleiman
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Rebekka
authors.initials: R
authors.lastname: Lencer
authors.forename: Christine
authors.initials: C
authors.lastname: Zuehlke
authors.forename: Kathrin
authors.initials: K
authors.lastname: Brockmann
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.forename: Ferdinand
authors.initials: F
authors.lastname: Binkofski
mesh_terms: D000328:Adult; D017668:Age of Onset; D001284:Atrophy / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000473:pathology*; D016022:Case-Control Studies; D002531:Cerebellum / Q000473:pathology; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology*; D018911:Trinucleotide Repeats