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Imaging and genetics in Parkinson's disease: assessment of the GBA1 mutation.

Sweta GhattiEsther YoonGrisel J LopezDebra EhrlichSilvina G Horovitz
Published in: Journal of neurology (2022)
Our results demonstrate significant cortical thinning in PD patients independent of genotype in superior parietal and postcentral regions when compared to the controls. They highlight the impact of GBA1 variants on cortical thickness in the parietal cortex. Finally, they suggest that recently diagnosed PD patients with N370S variants have a higher cortical thickness and increased active neurodegeneration when compared to PD patients without GBA1 mutations and PD patients with E326K or T369M variants.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • copy number
  • prognostic factors
  • high resolution
  • working memory
  • gene expression
  • photodynamic therapy
  • patient reported