Journal Article

FZJ-2023-01978

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Traschütz, A. ; Adarmes-Gomez, A. D. ; Anheim, M. ; Baets, J. ; Falkenburger, B. H. ; Gburek-Augustat, J. ; Doss, S. ; Kamm, C. ; Klivenyi, P. ; Grobe-Einsler, M. ; Klopstock, T. ; Minnerop, M.FZJ* ; Münchau, A. ; Pane, C. ; Renaud, M. ; Santorelli, F. M. ; Schöls, L. ; Timmann, D. ; Vielhaber, S. ; Haack, T. B. ; van de Warrenburg, B. P. ; Zanni, G. ; Synofzik, M. (Corresponding author)

2023
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mds.29397  doi:10.34734/FZJ-2023-01978

Abstract: Progress in next-generation sequencing has led to an explosion of novel genes and phenotypes of autosomal recessive cerebellar ataxias (ARCAs) in the last decade, with >170 recessive conditions manifesting with ataxia identified.1 With large-scale natural history and mechanistic treatment trials on the horizon for many ARCAs, up-to-date knowledge is required not only on relative frequencies but also on real-world age and disease severity distributions as key information for trial design planning and recruitment. In this multicenter study, we provide data on the relative frequency of ARCAs in Europe, delineate the spectrum of age at disease onset, and present real-world data on disease severity distributions of patients with ARCA that help to inform future trial planning.

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Contributing Institute(s):

1. Strukturelle und funktionelle Organisation des Gehirns (INM-1)

Research Program(s):

1. 5251 - Multilevel Brain Organization and Variability (POF4-525) (POF4-525)

Appears in the scientific report 2023

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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