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000139488 041__ $$aEnglish
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000139488 1001_ $$0P:(DE-2719)2811662$$aGiordano, Ilaria$$b0$$eFirst author$$udzne
000139488 245__ $$aClinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
000139488 260__ $$a[S.l.]$$bOvid$$c2017
000139488 264_1 $$2Crossref$$3online$$bOvid Technologies (Wolters Kluwer Health)$$c2017-08-09
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000139488 520__ $$aTo define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations.Methods:The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing.Results:The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 during follow-up. Positive MSA-C criteria (4.94 ± 0.74, p < 0.0001) and disease duration (0.22 ± 0.06 per additional year, p = 0.0007) were associated with a higher SARA score. Forty-eight participants who did not fulfill MSA-C criteria and had a disease duration of >10 years were designated sporadic adult-onset ataxia of unknown etiology/non-MSA (SAOA/non-MSA). Compared with MSA-C, SAOA/non-MSA patients had lower SARA scores (13.6 ± 6.0 vs 16.0 ± 5.8, p = 0.0200) and a slower annual SARA increase (1.1 ± 2.3 vs 3.3 ± 3.2, p = 0.0013). In 11 of 194 tested participants (6%), a definitive or probable genetic diagnosis was made.Conclusions:Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset. Screening for causative mutations with a gene panel approach yielded a genetic diagnosis in 6% of the cohort.
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000139488 650_2 $$2MeSH$$aAged
000139488 650_2 $$2MeSH$$aAtaxia: genetics
000139488 650_2 $$2MeSH$$aAtaxia: physiopathology
000139488 650_2 $$2MeSH$$aDNA Mutational Analysis
000139488 650_2 $$2MeSH$$aEurope
000139488 650_2 $$2MeSH$$aFemale
000139488 650_2 $$2MeSH$$aFollow-Up Studies
000139488 650_2 $$2MeSH$$aHumans
000139488 650_2 $$2MeSH$$aMale
000139488 650_2 $$2MeSH$$aMiddle Aged
000139488 650_2 $$2MeSH$$aMutation
000139488 650_2 $$2MeSH$$aNeurodegenerative Diseases: genetics
000139488 650_2 $$2MeSH$$aNeurodegenerative Diseases: physiopathology
000139488 650_2 $$2MeSH$$aSeverity of Illness Index
000139488 7001_ $$aHarmuth, Florian$$b1
000139488 7001_ $$0P:(DE-2719)2811564$$aJacobi, Heike$$b2$$udzne
000139488 7001_ $$0P:(DE-2719)2810794$$aPaap, Brigitte$$b3$$udzne
000139488 7001_ $$0P:(DE-2719)2000035$$aVielhaber, Stefan$$b4$$udzne
000139488 7001_ $$0P:(DE-2719)2810317$$aMachts, Judith$$b5$$udzne
000139488 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b6$$udzne
000139488 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b7$$udzne
000139488 7001_ $$aSturm, Marc$$b8
000139488 7001_ $$aTallaksen, Chantal$$b9
000139488 7001_ $$aWedding, Iselin M$$b10
000139488 7001_ $$aBoesch, Sylvia$$b11
000139488 7001_ $$aEigentler, Andreas$$b12
000139488 7001_ $$avan de Warrenburg, Bart$$b13
000139488 7001_ $$avan Gaalen, Judith$$b14
000139488 7001_ $$0P:(DE-2719)9000871$$aKamm, Christoph$$b15$$udzne
000139488 7001_ $$0P:(DE-2719)2811832$$aDudesek, Ales$$b16$$udzne
000139488 7001_ $$aKang, Jun-Suk$$b17
000139488 7001_ $$aTimmann, Dagmar$$b18
000139488 7001_ $$aSilvestri, Gabriella$$b19
000139488 7001_ $$aMasciullo, Marcella$$b20
000139488 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b21$$udzne
000139488 7001_ $$0P:(DE-2719)9000230$$aNeuhofer, Christiane$$b22$$udzne
000139488 7001_ $$aGanos, Christos$$b23
000139488 7001_ $$aFilla, Alessandro$$b24
000139488 7001_ $$aBauer, Peter$$b25
000139488 7001_ $$aTezenas du Montcel, Sophie$$b26
000139488 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b27$$eLast author$$udzne
000139488 77318 $$2Crossref$$3journal-article$$a10.1212/wnl.0000000000004311$$b : Ovid Technologies (Wolters Kluwer Health), 2017-08-09$$n10$$p1043-1049$$tNeurology$$v89$$x0028-3878$$y2017
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