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@ARTICLE{Greuel:154385,
      author       = {Greuel, Andrea and Trezzi, Jean-Pierre and Glaab, Enrico
                      and Ruppert, Marina C and Maier, Franziska and Jäger,
                      Christian and Hodak, Zdenka and Lohmann, Katja and Ma,
                      Yilong and Eidelberg, David and Timmermann, Lars and Hiller,
                      Karsten and Tittgemeyer, Marc and Drzezga, Alexander and
                      Diederich, Nico and Eggers, Carsten},
      title        = {{GBA} {V}ariants in {P}arkinson's {D}isease: {C}linical,
                      {M}etabolomic, and {M}ultimodal {N}euroimaging
                      {P}henotypes.},
      journal      = {Movement disorders},
      volume       = {35},
      number       = {12},
      issn         = {1531-8257},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2021-00238},
      pages        = {2201 - 2210},
      year         = {2020},
      note         = {ISSN 1531-8257 not unique: **3 hits**.},
      abstract     = {Alterations in the GBA gene $(NM_000157.3)$ are the most
                      important genetic risk factor for Parkinson's disease (PD).
                      Biallelic GBA mutations cause the lysosomal storage disorder
                      Gaucher's disease. The GBA variants p.E365K and p.T408M are
                      associated with PD but not with Gaucher's disease. The
                      pathophysiological role of these variants needs to be
                      further explored.This study analyzed clinical,
                      neuropsychological, metabolic, and neuroimaging phenotypes
                      of patients with PD carrying the GBA variants p.E365K and
                      p.T408M.GBA was sequenced in 56 patients with mid-stage PD.
                      Carriers of GBA variants were compared with noncarriers
                      regarding clinical history and symptoms, neuropsychological
                      features, metabolomics, and multimodal neuroimaging. Blood
                      plasma gas chromatography coupled to mass spectrometry,
                      6-[18 F]fluoro-L-Dopa positron emission tomography (PET),
                      [18 F]fluorodeoxyglucose PET, and resting-state functional
                      magnetic resonance imaging were performed.Sequence analysis
                      detected 13 heterozygous GBA variant carriers (7 with
                      p.E365K, 6 with p.T408M). One patient carried a GBA mutation
                      (p.N409S) and was excluded. Clinical history and symptoms
                      were not significantly different between groups. Global
                      cognitive performance was lower in variant carriers.
                      Metabolomic group differences were suggestive of more severe
                      PD-related alterations in carriers versus noncarriers. Both
                      PET scans showed signs of a more advanced disease; [18
                      F]fluorodeoxyglucose PET and functional magnetic resonance
                      imaging showed similarities with Lewy body dementia and PD
                      dementia in carriers.This is the first study to
                      comprehensively assess (neuro-)biological phenotypes of GBA
                      variants in PD. Metabolomics and neuroimaging detected more
                      significant group differences than clinical and behavioral
                      evaluation. These alterations could be promising to monitor
                      effects of disease-modifying treatments targeting
                      glucocerebrosidase metabolism. © 2020 The Authors. Movement
                      Disorders published by Wiley Periodicals LLC on behalf of
                      International Parkinson and Movement Disorder Society.},
      keywords     = {Glucosylceramidase: genetics / Humans / Metabolomics /
                      Mutation: genetics / Neuroimaging / Parkinson Disease:
                      diagnostic imaging / Parkinson Disease: genetics / Phenotype
                      / GBA (Other) / Parkinson's disease genetics (Other) /
                      metabolomics (Other) / multimodal functional neuroimaging
                      (Other)},
      cin          = {AG Boecker},
      ddc          = {610},
      cid          = {I:(DE-2719)1011202},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32853481},
      doi          = {10.1002/mds.28225},
      url          = {https://pub.dzne.de/record/154385},
}