%0 Journal Article
%A Giordano, Ilaria
%A Harmuth, Florian
%A Jacobi, Heike
%A Paap, Brigitte
%A Vielhaber, Stefan
%A Machts, Judith
%A Schöls, Ludger
%A Synofzik, Matthis
%A Sturm, Marc
%A Tallaksen, Chantal
%A Wedding, Iselin M
%A Boesch, Sylvia
%A Eigentler, Andreas
%A van de Warrenburg, Bart
%A van Gaalen, Judith
%A Kamm, Christoph
%A Dudesek, Ales
%A Kang, Jun-Suk
%A Timmann, Dagmar
%A Silvestri, Gabriella
%A Masciullo, Marcella
%A Klopstock, Thomas
%A Neuhofer, Christiane
%A Ganos, Christos
%A Filla, Alessandro
%A Bauer, Peter
%A Tezenas du Montcel, Sophie
%A Klockgether, Thomas
%T Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
%J Neurology
%V 89
%N 10
%@ 0028-3878
%C [S.l.]
%I Ovid
%M DZNE-2020-05810
%P 1043-1049
%D 2017
%X To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations.Methods:The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing.Results:The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 during follow-up. Positive MSA-C criteria (4.94 ± 0.74, p < 0.0001) and disease duration (0.22 ± 0.06 per additional year, p = 0.0007) were associated with a higher SARA score. Forty-eight participants who did not fulfill MSA-C criteria and had a disease duration of >10 years were designated sporadic adult-onset ataxia of unknown etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C, SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs 16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested participants (6
%K Aged
%K Ataxia: genetics
%K Ataxia: physiopathology
%K DNA Mutational Analysis
%K Europe
%K Female
%K Follow-Up Studies
%K Humans
%K Male
%K Middle Aged
%K Mutation
%K Neurodegenerative Diseases: genetics
%K Neurodegenerative Diseases: physiopathology
%K Severity of Illness Index
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:28794257
%R 10.1212/WNL.0000000000004311
%U https://pub.dzne.de/record/139488