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@ARTICLE{Hermann:281785,
      author       = {Hermann, Andreas and Prudlo, Johannes and Kasper, Elisabeth
                      and Synofzik, Matthis and Peters, Oliver and Priller, Josef
                      and Dinter, Elisabeth and Wiltfang, Jens and Zerr, Inga and
                      Flöel, Agnes and Bürger, Katharina and Höglinger, Günter
                      U and Levin, Johannes and Düzel, Emrah and Teipel, Stefan
                      and Beichert, Lukas and Brosseron, Frederic and Wagner,
                      Michael and Frommann, Ingo and Ramirez, Alfredo and Yakupov,
                      Renat and Schmid, Matthias and Lingor, Paul and Haass,
                      Christian and DESCRIBE-ALS and Spottke, Annika and Günther,
                      René and Weydt, Patrick and Neumann, Manuela and Schneider,
                      Anja},
      collaboration = {consortium, DESCRIBE-FTD},
      title        = {'{T}he {DESCRIBE}-{ALS}-{FTD} study: a prospective
                      multicenter observational study of the {ALS}-{FTD}
                      spectrum'.},
      journal      = {Amyotrophic lateral sclerosis $\&$ frontotemporal
                      degeneration},
      volume       = {26},
      number       = {7-8},
      issn         = {2167-8421},
      address      = {Abingdon},
      publisher    = {Taylor Francis Group},
      reportid     = {DZNE-2025-01178},
      pages        = {720 - 728},
      year         = {2025},
      abstract     = {Background: Amyotrophic lateral sclerosis (ALS) and
                      frontotemporal dementia (FTD) exhibit significant clinical,
                      genetic and neuropathological abnormalities, and are
                      regarded as belonging to a common disease spectrum, referred
                      to as the ALS-FTD spectrum disorders. Our understanding of
                      the underlying mechanisms of these diseases has advanced
                      significantly, including molecular neuropathology, genetics
                      and molecular pathophysiology. The heterogeneity of these
                      diseases poses significant challenges to translational
                      research and drug development, particularly in sporadic
                      cases. Consequently, there is an urgent need to improve
                      patient stratification for the successful execution of
                      future clinical trials. Methods/Results: We here describe
                      the study design of the DESCRIBE-ALS/FTD study which aims to
                      address this research gap by undertaking a systematic
                      sampling of patients from the ALS FTD spectrum, encompassing
                      all possible disease variants. The main objective of the
                      study is to systematically document detailed cross-sectional
                      phenotyping and the temporal progression of motor and
                      neuropsychological abnormalities that occur in both ALS and
                      FTD. Additionally, it seeks to systematically correlate
                      these abnormalities with genetics and potentially predictive
                      biomarkers including longitudinal biomaterial sampling,
                      brain imaging and brain banking. Furthermore, first-degree
                      relatives of patients with disease-causing gene variants
                      undergo the same assessments to also sample presymptomatic
                      risk gene carriers. Conclusion: With this prospective
                      registry study we aim to generate datasets which will help
                      researchers identifying different disease traits in people
                      with sporadic and genetic ALS and FTD and to develop
                      biomarkers to identify preclinical and prodromal disease
                      stages.},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: genetics /
                      Amyotrophic Lateral Sclerosis: diagnosis / Amyotrophic
                      Lateral Sclerosis: physiopathology / Frontotemporal
                      Dementia: genetics / Frontotemporal Dementia: diagnosis /
                      Prospective Studies / Male / Female / Middle Aged / Aged /
                      Disease Progression / Cross-Sectional Studies / Amyotrophic
                      lateral sclerosis (Other) / biomarkers (Other) / disease
                      traits (Other) / frontotemporal dementia (Other) / genetics
                      (Other) / neuropathology (Other)},
      cin          = {AG Schneider / AG Hermann / AG Teipel / AG Gasser / AG
                      Peters / AG Priller / AG Falkenburger / AG Wiltfang / AG
                      Zerr / AG Flöel / Clinical Research (Munich) / AG Levin /
                      AG Düzel / AG Heneka / AG Wagner / Patient Studies (Bonn) /
                      AG Schmid Bonn / AG Haass / AG Spottke / Clinical Research
                      Platform (CRP) / Clinical Research (Bonn) / AG Neumann},
      ddc          = {610},
      cid          = {I:(DE-2719)1011305 / I:(DE-2719)1511100 /
                      I:(DE-2719)1510100 / I:(DE-2719)1210000 / I:(DE-2719)5000000
                      / I:(DE-2719)5000007 / I:(DE-2719)1710012 /
                      I:(DE-2719)1410006 / I:(DE-2719)1440011-1 /
                      I:(DE-2719)5000081 / I:(DE-2719)1111015 / I:(DE-2719)1111016
                      / I:(DE-2719)5000006 / I:(DE-2719)1011303 /
                      I:(DE-2719)1011201 / I:(DE-2719)1011101 / I:(DE-2719)1013028
                      / I:(DE-2719)1110007 / I:(DE-2719)1011103 /
                      I:(DE-2719)1011401 / I:(DE-2719)1011001 /
                      I:(DE-2719)1210003},
      pnm          = {353 - Clinical and Health Care Research (POF4-353) / 352 -
                      Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-353 / G:(DE-HGF)POF4-352},
      experiment   = {EXP:(DE-2719)DESCRIBE-FTD-20160101},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40488385},
      doi          = {10.1080/21678421.2025.2509617},
      url          = {https://pub.dzne.de/record/281785},
}