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@ARTICLE{TezenasduMontcel:137436,
      author       = {Tezenas du Montcel, Sophie and Durr, Alexandra and
                      Rakowicz, Maria and Nanetti, Lorenzo and Charles, Perrine
                      and Sulek, Anna and Mariotti, Caterina and Rola, Rafal and
                      Schols, Ludger and Bauer, Peter and Dufaure-Garé, Isabelle
                      and Jacobi, Heike and Forlani, Sylvie and Schmitz-Hübsch,
                      Tanja and Filla, Alessandro and Timmann, Dagmar and van de
                      Warrenburg, Bart P and Marelli, Cecila and Kang, Jun-Suk and
                      Giunti, Paola and Cook, Arron and Baliko, Laszlo and Melegh,
                      Béla and Bela, Melegh and Boesch, Sylvia and Szymanski,
                      Sandra and Berciano, José and Infante, Jon and Buerk,
                      Katrin and Masciullo, Marcella and Di Fabio, Roberto and
                      Depondt, Chantal and Ratka, Susanne and Stevanin, Giovanni
                      and Klockgether, Thomas and Brice, Alexis and Golmard,
                      Jean-Louis},
      title        = {{P}rediction of the age at onset in spinocerebellar ataxia
                      type 1, 2, 3 and 6.},
      journal      = {Journal of medical genetics},
      volume       = {51},
      number       = {7},
      issn         = {0022-2593},
      address      = {London},
      publisher    = {BMJ Publishing Group},
      reportid     = {DZNE-2020-03758},
      pages        = {479-486},
      year         = {2014},
      abstract     = {The most common spinocerebellar ataxias (SCA)--SCA1, SCA2,
                      SCA3, and SCA6--are caused by (CAG)n repeat expansion. While
                      the number of repeats of the coding (CAG)n expansions is
                      correlated with the age at onset, there are no appropriate
                      models that include both affected and preclinical carriers
                      allowing for the prediction of age at onset.We combined data
                      from two major European cohorts of SCA1, SCA2, SCA3, and
                      SCA6 mutation carriers: 1187 affected individuals from the
                      EUROSCA registry and 123 preclinical individuals from the
                      RISCA cohort. For each SCA genotype, a regression model was
                      fitted using a log-normal distribution for age at onset with
                      the repeat length of the alleles as covariates. From these
                      models, we calculated expected age at onset from birth and
                      conditionally that this age is greater than the current
                      age.For SCA2 and SCA3 genotypes, the expanded allele was a
                      significant predictor of age at onset (-0.105±0.005 and
                      -0.056±0.003) while for SCA1 and SCA6 genotypes both the
                      size of the expanded and normal alleles were significant
                      (expanded: -0.049±0.002 and -0.090±0.009, respectively;
                      normal: +0.013±0.005 and -0.029±0.010, respectively).
                      According to the model, we indicated the median values
                      $(90\%$ critical region) and the expectancy (SD) of the
                      predicted age at onset for each SCA genotype according to
                      the CAG repeat size and current age.These estimations can be
                      valuable in clinical and research. However, results need to
                      be confirmed in other independent cohorts and in future
                      longitudinal studies.NCT01037777 and NCT00136630 for the
                      French patients.},
      keywords     = {Adult / Age of Onset / Algorithms / Female / Genotype /
                      Humans / Male / Middle Aged / Models, Genetic / Models,
                      Statistical / Spinocerebellar Ataxias: epidemiology /
                      Spinocerebellar Ataxias: genetics},
      cin          = {AG Schöls 1 / Patient studies, Bonn},
      ddc          = {610},
      cid          = {I:(DE-2719)5000005 / I:(DE-2719)1011101},
      pnm          = {344 - Clinical and Health Care Research (POF3-344) / 345 -
                      Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-344 / G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24780882},
      pmc          = {pmc:PMC4078703},
      doi          = {10.1136/jmedgenet-2013-102200},
      url          = {https://pub.dzne.de/record/137436},
}