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@ARTICLE{Liu:138892,
      author       = {Liu, Ganqiang and Boot, Brendon and Locascio, Joseph J and
                      Jansen, Iris E and Winder-Rhodes, Sophie and Eberly, Shirley
                      and Elbaz, Alexis and Brice, Alexis and Ravina, Bernard and
                      van Hilten, Jacobus J and Cormier-Dequaire, Florence and
                      Corvol, Jean-Christophe and Barker, Roger A and Heutink,
                      Peter and Marinus, Johan and Williams-Gray, Caroline H and
                      Scherzer, Clemens R and Progression, International Genetics
                      of Parkinson Disease and Scherzer, C. and Hyman, B. T. and
                      Ivinson, A. J. and Trisini-Lipsanopoulos, A. and Franco, D.
                      and Burke, K. and Sudarsky, L. R. and Hayes, M. T. and Umeh,
                      C. C. and Growdon, J. H. and Schwarzschild, M. A. and Hung,
                      A. Y. and Flaherty, A. W. and Wills, A-M and Mejia, N. I.
                      and Gomperts, S. N. and Khurana, V. and Selkoe, D. J. and
                      Yi, T. and Page, K. and Liao, Z. and Barker, R. and
                      Foltynie, T. and Williams-Gray, C. H. and Mason, S. and
                      Winder-Rhodes, S. and Barker, R. and Williams-Gray, C. H.
                      and Breen, D. and Cummins, G. and Evans, J. and
                      Winder-Rhodes, S. and Corvol, J-C and Brice, A. and Elbaz,
                      A. and Mallet, A. and Vidailhet, M. and Bonnet, A-M and
                      Bonnet, C. and Grabli, D. and Hartmann, A. and Klebe, S. and
                      Lacomblez, L. and Mangone, G. and Bourdain, F. and Brandel,
                      J-P and Derkinderen, P. and Durif, F. and Mesnage, V. and
                      Pico, F. and Rascol, O. and Forlani, S. and Lesage, S. and
                      Tahiri, K. and van Hilten, J. J. and Marinus, J. and Liao,
                      Z. and Page, K. and Franco, D. and Duong, K. and Yi, T. and
                      Trisini-Lipsanopoulos, A. and Dong, X. and Sudarsky, L. R.
                      and Hutten, S. J. and Amr, S. S. and Shoulson, I. and
                      Tanner, C. M. and Lang, A. E. and Nalls, M. A.},
      title        = {{S}pecifically neuropathic {G}aucher's mutations accelerate
                      cognitive decline in {P}arkinson's.},
      journal      = {Annals of neurology},
      volume       = {80},
      number       = {5},
      issn         = {0364-5134},
      address      = {Hoboken, NJ},
      publisher    = {Wiley-Blackwell},
      reportid     = {DZNE-2020-05214},
      pages        = {674-685},
      year         = {2016},
      abstract     = {We hypothesized that specific mutations in the
                      β-glucocerebrosidase gene (GBA) causing neuropathic
                      Gaucher's disease (GD) in homozygotes lead to aggressive
                      cognitive decline in heterozygous Parkinson's disease (PD)
                      patients, whereas non-neuropathic GD mutations confer
                      intermediate progression rates.A total of 2,304 patients
                      with PD and 20,868 longitudinal visits for up to 12.8 years
                      (median, 4.1) from seven cohorts were analyzed. Differential
                      effects of four types of genetic variation in GBA on
                      longitudinal cognitive decline were evaluated using mixed
                      random and fixed effects and Cox proportional hazards
                      models.Overall, $10.3\%$ of patients with PD and GBA
                      sequencing carried a mutation. Carriers of neuropathic GD
                      mutations $(1.4\%$ of patients) had hazard ratios (HRs) for
                      global cognitive impairment of 3.17 $(95\%$ confidence
                      interval [CI], 1.60-6.25) and a hastened decline in
                      Mini-Mental State Exam scores compared to noncarriers
                      (p = 0.0009). Carriers of complex GBA alleles $(0.7\%)$
                      had an HR of 3.22 $(95\%$ CI, 1.18-8.73; p = 0.022). By
                      contrast, the common, non-neuropathic N370S mutation
                      $(1.5\%$ of patients; HR, 1.96; $95\%$ CI, 0.92-4.18) or
                      nonpathogenic risk variants $(6.6\%$ of patients; HR, 1.36;
                      $95\%$ CI, 0.89-2.05) did not reach significance.Mutations
                      in the GBA gene pathogenic for neuropathic GD and complex
                      alleles shift longitudinal cognitive decline in PD into
                      'high gear.' These findings suggest a relationship between
                      specific types of GBA mutations and aggressive cognitive
                      decline and have direct implications for improving the
                      design of clinical trials. Ann Neurol 2016;80:674-685.},
      keywords     = {Aged / Aged, 80 and over / Cognitive Dysfunction: etiology
                      / Cognitive Dysfunction: genetics / Disease Progression /
                      Female / Gaucher Disease: complications / Gaucher Disease:
                      genetics / Glucosylceramidase: genetics / Humans /
                      Longitudinal Studies / Male / Middle Aged / Parkinson
                      Disease: complications / Parkinson Disease: genetics /
                      Glucosylceramidase (NLM Chemicals)},
      cin          = {AG Heutink 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1210002},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27717005},
      pmc          = {pmc:PMC5244667},
      doi          = {10.1002/ana.24781},
      url          = {https://pub.dzne.de/record/138892},
}