TY  - JOUR
AU  - Giordano, Ilaria
AU  - Harmuth, Florian
AU  - Jacobi, Heike
AU  - Paap, Brigitte
AU  - Vielhaber, Stefan
AU  - Machts, Judith
AU  - Schöls, Ludger
AU  - Synofzik, Matthis
AU  - Sturm, Marc
AU  - Tallaksen, Chantal
AU  - Wedding, Iselin M
AU  - Boesch, Sylvia
AU  - Eigentler, Andreas
AU  - van de Warrenburg, Bart
AU  - van Gaalen, Judith
AU  - Kamm, Christoph
AU  - Dudesek, Ales
AU  - Kang, Jun-Suk
AU  - Timmann, Dagmar
AU  - Silvestri, Gabriella
AU  - Masciullo, Marcella
AU  - Klopstock, Thomas
AU  - Neuhofer, Christiane
AU  - Ganos, Christos
AU  - Filla, Alessandro
AU  - Bauer, Peter
AU  - Tezenas du Montcel, Sophie
AU  - Klockgether, Thomas
TI  - Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
JO  - Neurology
VL  - 89
IS  - 10
SN  - 0028-3878
CY  - [S.l.]
PB  - Ovid
M1  - DZNE-2020-05810
SP  - 1043-1049
PY  - 2017
AB  - 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
KW  - Aged
KW  - Ataxia: genetics
KW  - Ataxia: physiopathology
KW  - DNA Mutational Analysis
KW  - Europe
KW  - Female
KW  - Follow-Up Studies
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Neurodegenerative Diseases: genetics
KW  - Neurodegenerative Diseases: physiopathology
KW  - Severity of Illness Index
LB  - PUB:(DE-HGF)16
C6  - pmid:28794257
DO  - DOI:10.1212/WNL.0000000000004311
UR  - https://pub.dzne.de/record/139488
ER  -