% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Giordano:139488,
      author       = {Giordano, Ilaria and Harmuth, Florian and Jacobi, Heike and
                      Paap, Brigitte and Vielhaber, Stefan and Machts, Judith and
                      Schöls, Ludger and Synofzik, Matthis and Sturm, Marc and
                      Tallaksen, Chantal and Wedding, Iselin M and Boesch, Sylvia
                      and Eigentler, Andreas and van de Warrenburg, Bart and van
                      Gaalen, Judith and Kamm, Christoph and Dudesek, Ales and
                      Kang, Jun-Suk and Timmann, Dagmar and Silvestri, Gabriella
                      and Masciullo, Marcella and Klopstock, Thomas and Neuhofer,
                      Christiane and Ganos, Christos and Filla, Alessandro and
                      Bauer, Peter and Tezenas du Montcel, Sophie and Klockgether,
                      Thomas},
      title        = {{C}linical and genetic characteristics of sporadic
                      adult-onset degenerative ataxia.},
      journal      = {Neurology},
      volume       = {89},
      number       = {10},
      issn         = {0028-3878},
      address      = {[S.l.]},
      publisher    = {Ovid},
      reportid     = {DZNE-2020-05810},
      pages        = {1043-1049},
      year         = {2017},
      abstract     = {To define the clinical phenotype and natural history of
                      sporadic adult-onset degenerative ataxia and to identify
                      putative disease-causing mutations.Methods:The primary
                      measure of disease severity was the Scale for the Assessment
                      and Rating of Ataxia (SARA). DNA samples were screened for
                      mutations using a high-coverage ataxia-specific gene panel
                      in combination with next-generation sequencing.Results:The
                      analysis was performed on 249 participants. Among them, 83
                      met diagnostic criteria of clinically probable multiple
                      system atrophy cerebellar type (MSA-C) at baseline and
                      another 12 during follow-up. Positive MSA-C criteria (4.94
                      ± 0.74, p < 0.0001) and disease duration (0.22 ± 0.06 per
                      additional year, p = 0.0007) were associated with a higher
                      SARA score. Forty-eight participants who did not fulfill
                      MSA-C criteria and had a disease duration of >10 years were
                      designated sporadic adult-onset ataxia of unknown
                      etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C,
                      SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs
                      16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase
                      (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested
                      participants $(6\%),$ a definitive or probable genetic
                      diagnosis was made.Conclusions:Our study provides
                      quantitative data on the clinical phenotype and progression
                      of sporadic ataxia with adult onset. Screening for causative
                      mutations with a gene panel approach yielded a genetic
                      diagnosis in $6\%$ of the cohort.},
      keywords     = {Aged / Ataxia: genetics / Ataxia: physiopathology / DNA
                      Mutational Analysis / Europe / Female / Follow-Up Studies /
                      Humans / Male / Middle Aged / Mutation / Neurodegenerative
                      Diseases: genetics / Neurodegenerative Diseases:
                      physiopathology / Severity of Illness Index},
      cin          = {Patient Studies Bonn / AG Düzel / AG Speck / AG Schöls /
                      AG Gasser / AG Levin / Magdeburg common},
      ddc          = {610},
      cid          = {I:(DE-2719)1011101 / I:(DE-2719)5000006 /
                      I:(DE-2719)1340009 / I:(DE-2719)5000005 / I:(DE-2719)1210000
                      / I:(DE-2719)1111016 / I:(DE-2719)6000015},
      pnm          = {345 - Population Studies and Genetics (POF3-345) / 344 -
                      Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-345 / G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28794257},
      doi          = {10.1212/WNL.0000000000004311},
      url          = {https://pub.dzne.de/record/139488},
}