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@ARTICLE{Wilke:153278,
      author       = {Wilke, Carlo and Haas, Eva and Reetz, Kathrin and Faber,
                      Jennifer and Garcia‐Moreno, Hector and Santana, Magda M
                      and Warrenburg, Bart and Hengel, Holger and Lima, Manuela
                      and Filla, Alessandro and Durr, Alexandra and Melegh, Bela
                      and Masciullo, Marcella and Infante, Jon and Giunti, Paola
                      and Neumann, Manuela and Vries, Jeroen and Pereira de
                      Almeida, Luis and Rakowicz, Maria and Jacobi, Heike and
                      Schüle, Rebecca and Kaeser, Stephan A and Kuhle, Jens and
                      Klockgether, Thomas and Schöls, Ludger and Barro, Christian
                      and Hübener‐Schmid, Jeannette and Synofzik, Matthis and
                      Deuschle, Christian and Stransky, Elke and Brockmann,
                      Kathrin and Schulz, Jörg B and Baliko, Laszlo and Gaalen,
                      Judith and Raposo, Mafalda and Jeromin, Andreas},
      title        = {{N}eurofilaments in spinocerebellar ataxia type 3: blood
                      biomarkers at the preataxic and ataxic stage in humans and
                      mice},
      journal      = {EMBO molecular medicine},
      volume       = {12},
      number       = {7},
      issn         = {1757-4684},
      address      = {Heidelberg},
      publisher    = {EMBO Press},
      reportid     = {DZNE-2020-01275},
      pages        = {e11803},
      year         = {2020},
      abstract     = {With molecular treatments coming into reach for
                      spinocerebellar ataxia type 3 (SCA3), easily accessible,
                      cross‐species validated biomarkers for human and
                      preclinical trials are warranted, particularly for the
                      preataxic disease stage. We assessed serum levels of
                      neurofilament light (NfL) and phosphorylated neurofilament
                      heavy (pNfH) in ataxic and preataxic subjects of two
                      independent multicentric SCA3 cohorts and in a SCA3
                      knock‐in mouse model. Ataxic SCA3 subjects showed
                      increased levels of both NfL and pNfH. In preataxic
                      subjects, NfL levels increased with proximity to the
                      individual expected onset of ataxia, with significant NfL
                      elevations already 7.5 years before onset. Cross‐sectional
                      NfL levels correlated with both disease severity and
                      longitudinal disease progression. Blood NfL and pNfH
                      increases in human SCA3 were each paralleled by similar
                      changes in SCA3 knock‐in mice, here also starting already
                      at the presymptomatic stage, closely following ataxin‐3
                      aggregation and preceding Purkinje cell loss in the brain.
                      Blood neurofilaments, particularly NfL, might thus provide
                      easily accessible, cross‐species validated biomarkers in
                      both ataxic and preataxic SCA3, associated with earliest
                      neuropathological changes, and serve as progression,
                      proximity‐to‐onset and, potentially,
                      treatment‐response markers in both human and preclinical
                      SCA3 trials.},
      keywords     = {Animals / Biomarkers: blood / Cross-Sectional Studies /
                      Female / Humans / Intermediate Filaments: chemistry /
                      Machado-Joseph Disease: blood / Male / Mice / Prodromal
                      Symptoms / Severity of Illness Index},
      cin          = {Core ICRU / Patient Studies Bonn / AG Gasser / AG Neumann /
                      AG Maetzler / AG Jucker / AG Jessen / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1240005 / I:(DE-2719)1011101 /
                      I:(DE-2719)1210000 / I:(DE-2719)1210003 / I:(DE-2719)5000024
                      / I:(DE-2719)1210001 / I:(DE-2719)1011102 /
                      I:(DE-2719)5000005},
      pnm          = {342 - Disease Mechanisms and Model Systems (POF3-342) / 345
                      - Population Studies and Genetics (POF3-345) / 344 -
                      Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-342 / G:(DE-HGF)POF3-345 /
                      G:(DE-HGF)POF3-344},
      experiment   = {EXP:(DE-2719)ESMI-20140101},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC7338806},
      pubmed       = {pmid:32510847},
      doi          = {10.15252/emmm.201911803},
      url          = {https://pub.dzne.de/record/153278},
}