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| 001 | 139488 | ||
| 005 | 20240321220628.0 | ||
| 024 | 7 | _ | |a 10.1212/WNL.0000000000004311 |2 doi |
| 024 | 7 | _ | |a pmid:28794257 |2 pmid |
| 024 | 7 | _ | |a 0028-3878 |2 ISSN |
| 024 | 7 | _ | |a 1526-632X |2 ISSN |
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| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Giordano, Ilaria |0 P:(DE-2719)2811662 |b 0 |e First author |u dzne |
| 245 | _ | _ | |a Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. |
| 260 | _ | _ | |a [S.l.] |c 2017 |b Ovid |
| 264 | _ | 1 | |3 online |2 Crossref |b Ovid Technologies (Wolters Kluwer Health) |c 2017-08-09 |
| 264 | _ | 1 | |3 print |2 Crossref |b Ovid Technologies (Wolters Kluwer Health) |c 2017-09-05 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
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| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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%), a definitive or probable genetic diagnosis was made.Conclusions:Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort. |
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| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Ataxia: genetics |2 MeSH |
| 650 | _ | 2 | |a Ataxia: physiopathology |2 MeSH |
| 650 | _ | 2 | |a DNA Mutational Analysis |2 MeSH |
| 650 | _ | 2 | |a Europe |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Follow-Up Studies |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Mutation |2 MeSH |
| 650 | _ | 2 | |a Neurodegenerative Diseases: genetics |2 MeSH |
| 650 | _ | 2 | |a Neurodegenerative Diseases: physiopathology |2 MeSH |
| 650 | _ | 2 | |a Severity of Illness Index |2 MeSH |
| 700 | 1 | _ | |a Harmuth, Florian |b 1 |
| 700 | 1 | _ | |a Jacobi, Heike |0 P:(DE-2719)2811564 |b 2 |u dzne |
| 700 | 1 | _ | |a Paap, Brigitte |0 P:(DE-2719)2810794 |b 3 |u dzne |
| 700 | 1 | _ | |a Vielhaber, Stefan |0 P:(DE-2719)2000035 |b 4 |u dzne |
| 700 | 1 | _ | |a Machts, Judith |0 P:(DE-2719)2810317 |b 5 |u dzne |
| 700 | 1 | _ | |a Schöls, Ludger |0 P:(DE-2719)2810795 |b 6 |u dzne |
| 700 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-2719)2811275 |b 7 |u dzne |
| 700 | 1 | _ | |a Sturm, Marc |b 8 |
| 700 | 1 | _ | |a Tallaksen, Chantal |b 9 |
| 700 | 1 | _ | |a Wedding, Iselin M |b 10 |
| 700 | 1 | _ | |a Boesch, Sylvia |b 11 |
| 700 | 1 | _ | |a Eigentler, Andreas |b 12 |
| 700 | 1 | _ | |a van de Warrenburg, Bart |b 13 |
| 700 | 1 | _ | |a van Gaalen, Judith |b 14 |
| 700 | 1 | _ | |a Kamm, Christoph |0 P:(DE-2719)9000871 |b 15 |u dzne |
| 700 | 1 | _ | |a Dudesek, Ales |0 P:(DE-2719)2811832 |b 16 |u dzne |
| 700 | 1 | _ | |a Kang, Jun-Suk |b 17 |
| 700 | 1 | _ | |a Timmann, Dagmar |b 18 |
| 700 | 1 | _ | |a Silvestri, Gabriella |b 19 |
| 700 | 1 | _ | |a Masciullo, Marcella |b 20 |
| 700 | 1 | _ | |a Klopstock, Thomas |0 P:(DE-2719)2810704 |b 21 |u dzne |
| 700 | 1 | _ | |a Neuhofer, Christiane |0 P:(DE-2719)9000230 |b 22 |u dzne |
| 700 | 1 | _ | |a Ganos, Christos |b 23 |
| 700 | 1 | _ | |a Filla, Alessandro |b 24 |
| 700 | 1 | _ | |a Bauer, Peter |b 25 |
| 700 | 1 | _ | |a Tezenas du Montcel, Sophie |b 26 |
| 700 | 1 | _ | |a Klockgether, Thomas |0 P:(DE-2719)2810314 |b 27 |e Last author |u dzne |
| 773 | 1 | 8 | |a 10.1212/wnl.0000000000004311 |b : Ovid Technologies (Wolters Kluwer Health), 2017-08-09 |n 10 |p 1043-1049 |3 journal-article |2 Crossref |t Neurology |v 89 |y 2017 |x 0028-3878 |
| 773 | _ | _ | |a 10.1212/WNL.0000000000004311 |g Vol. 89, no. 10, p. 1043 - 1049 |0 PERI:(DE-600)1491874-2 |n 10 |q 89:10<1043 - 1049 |p 1043-1049 |t Neurology |v 89 |y 2017 |x 0028-3878 |
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