TY  - JOUR
AU  - Hermann, Andreas
AU  - Prudlo, Johannes
AU  - Kasper, Elisabeth
AU  - Synofzik, Matthis
AU  - Peters, Oliver
AU  - Priller, Josef
AU  - Dinter, Elisabeth
AU  - Wiltfang, Jens
AU  - Zerr, Inga
AU  - Flöel, Agnes
AU  - Bürger, Katharina
AU  - Höglinger, Günter U
AU  - Levin, Johannes
AU  - Düzel, Emrah
AU  - Teipel, Stefan
AU  - Beichert, Lukas
AU  - Brosseron, Frederic
AU  - Wagner, Michael
AU  - Frommann, Ingo
AU  - Ramirez, Alfredo
AU  - Yakupov, Renat
AU  - Schmid, Matthias
AU  - Lingor, Paul
AU  - Haass, Christian
AU  - DESCRIBE-ALS
AU  - Spottke, Annika
AU  - Günther, René
AU  - Weydt, Patrick
AU  - Neumann, Manuela
AU  - Schneider, Anja
TI  - 'The DESCRIBE-ALS-FTD study: a prospective multicenter observational study of the ALS-FTD spectrum'.
JO  - Amyotrophic lateral sclerosis & frontotemporal degeneration
VL  - 26
IS  - 7-8
SN  - 2167-8421
CY  - Abingdon
PB  - Taylor Francis Group
M1  - DZNE-2025-01178
SP  - 720 - 728
PY  - 2025
AB  - 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.
KW  - Humans
KW  - Amyotrophic Lateral Sclerosis: genetics
KW  - Amyotrophic Lateral Sclerosis: diagnosis
KW  - Amyotrophic Lateral Sclerosis: physiopathology
KW  - Frontotemporal Dementia: genetics
KW  - Frontotemporal Dementia: diagnosis
KW  - Prospective Studies
KW  - Male
KW  - Female
KW  - Middle Aged
KW  - Aged
KW  - Disease Progression
KW  - Cross-Sectional Studies
KW  - Amyotrophic lateral sclerosis (Other)
KW  - biomarkers (Other)
KW  - disease traits (Other)
KW  - frontotemporal dementia (Other)
KW  - genetics (Other)
KW  - neuropathology (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:40488385
DO  - DOI:10.1080/21678421.2025.2509617
UR  - https://pub.dzne.de/record/281785
ER  -