TY  - JOUR
AU  - Traschütz, Andreas
AU  - Adarmes-Gomez, Astrid D.
AU  - Anheim, Mathieu
AU  - Baets, Jonathan
AU  - Falkenburger, Björn H.
AU  - Gburek-Augustat, Janina
AU  - Doss, Sarah
AU  - Kamm, Christoph
AU  - Klivenyi, Peter
AU  - Grobe-Einsler, Marcus
AU  - Klopstock, Thomas
AU  - Minnerop, Martina
AU  - Münchau, Alexander
AU  - Pane, Chiara
AU  - Renaud, Mathilde
AU  - Santorelli, Filippo M.
AU  - Schöls, Ludger
AU  - Timmann, Dagmar
AU  - Vielhaber, Stefan
AU  - Haack, Tobias B.
AU  - van de Warrenburg, Bart P.
AU  - Zanni, Ginevra
AU  - Synofzik, Matthis
TI  - Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
JO  - Movement disorders
VL  - 38
IS  - 6
SN  - 0885-3185
CY  - New York, NY
PB  - Wiley
M1  - FZJ-2023-01978
SP  - 1109-1112
PY  - 2023
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - 37027459
UR  - <Go to ISI:>//WOS:000989750000001
DO  - DOI:10.1002/mds.29397
UR  - https://juser.fz-juelich.de/record/1007199
ER  -