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000137436 0247_ $$2doi$$a10.1136/jmedgenet-2013-102200
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000137436 0247_ $$2ISSN$$a0022-2593
000137436 0247_ $$2ISSN$$a1468-6244
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000137436 037__ $$aDZNE-2020-03758
000137436 041__ $$aEnglish
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000137436 1001_ $$0P:(DE-HGF)0$$aTezenas du Montcel, Sophie$$b0$$eCorresponding author
000137436 245__ $$aPrediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
000137436 260__ $$aLondon$$bBMJ Publishing Group$$c2014
000137436 264_1 $$2Crossref$$3online$$bBMJ$$c2014-04-29
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000137436 520__ $$aThe most common spinocerebellar ataxias (SCA)--SCA1, SCA2, SCA3, and SCA6--are caused by (CAG)n repeat expansion. While the number of repeats of the coding (CAG)n expansions is correlated with the age at onset, there are no appropriate models that include both affected and preclinical carriers allowing for the prediction of age at onset.We combined data from two major European cohorts of SCA1, SCA2, SCA3, and SCA6 mutation carriers: 1187 affected individuals from the EUROSCA registry and 123 preclinical individuals from the RISCA cohort. For each SCA genotype, a regression model was fitted using a log-normal distribution for age at onset with the repeat length of the alleles as covariates. From these models, we calculated expected age at onset from birth and conditionally that this age is greater than the current age.For SCA2 and SCA3 genotypes, the expanded allele was a significant predictor of age at onset (-0.105±0.005 and -0.056±0.003) while for SCA1 and SCA6 genotypes both the size of the expanded and normal alleles were significant (expanded: -0.049±0.002 and -0.090±0.009, respectively; normal: +0.013±0.005 and -0.029±0.010, respectively). According to the model, we indicated the median values (90% critical region) and the expectancy (SD) of the predicted age at onset for each SCA genotype according to the CAG repeat size and current age.These estimations can be valuable in clinical and research. However, results need to be confirmed in other independent cohorts and in future longitudinal studies.NCT01037777 and NCT00136630 for the French patients.
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000137436 650_2 $$2MeSH$$aAdult
000137436 650_2 $$2MeSH$$aAge of Onset
000137436 650_2 $$2MeSH$$aAlgorithms
000137436 650_2 $$2MeSH$$aFemale
000137436 650_2 $$2MeSH$$aGenotype
000137436 650_2 $$2MeSH$$aHumans
000137436 650_2 $$2MeSH$$aMale
000137436 650_2 $$2MeSH$$aMiddle Aged
000137436 650_2 $$2MeSH$$aModels, Genetic
000137436 650_2 $$2MeSH$$aModels, Statistical
000137436 650_2 $$2MeSH$$aSpinocerebellar Ataxias: epidemiology
000137436 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000137436 7001_ $$0P:(DE-HGF)0$$aDurr, Alexandra$$b1
000137436 7001_ $$0P:(DE-HGF)0$$aRakowicz, Maria$$b2
000137436 7001_ $$0P:(DE-HGF)0$$aNanetti, Lorenzo$$b3
000137436 7001_ $$0P:(DE-HGF)0$$aCharles, Perrine$$b4
000137436 7001_ $$0P:(DE-HGF)0$$aSulek, Anna$$b5
000137436 7001_ $$0P:(DE-HGF)0$$aMariotti, Caterina$$b6
000137436 7001_ $$0P:(DE-HGF)0$$aRola, Rafal$$b7
000137436 7001_ $$0P:(DE-2719)2810795$$aSchols, Ludger$$b8$$udzne
000137436 7001_ $$0P:(DE-HGF)0$$aBauer, Peter$$b9
000137436 7001_ $$0P:(DE-HGF)0$$aDufaure-Garé, Isabelle$$b10
000137436 7001_ $$0P:(DE-HGF)0$$aJacobi, Heike$$b11
000137436 7001_ $$0P:(DE-HGF)0$$aForlani, Sylvie$$b12
000137436 7001_ $$0P:(DE-HGF)0$$aSchmitz-Hübsch, Tanja$$b13
000137436 7001_ $$0P:(DE-HGF)0$$aFilla, Alessandro$$b14
000137436 7001_ $$0P:(DE-HGF)0$$aTimmann, Dagmar$$b15
000137436 7001_ $$0P:(DE-HGF)0$$avan de Warrenburg, Bart P$$b16
000137436 7001_ $$0P:(DE-HGF)0$$aMarelli, Cecila$$b17
000137436 7001_ $$0P:(DE-HGF)0$$aKang, Jun-Suk$$b18
000137436 7001_ $$0P:(DE-HGF)0$$aGiunti, Paola$$b19
000137436 7001_ $$0P:(DE-HGF)0$$aCook, Arron$$b20
000137436 7001_ $$0P:(DE-HGF)0$$aBaliko, Laszlo$$b21
000137436 7001_ $$0P:(DE-HGF)0$$aMelegh, Béla$$b22
000137436 7001_ $$0P:(DE-HGF)0$$aBela, Melegh$$b23
000137436 7001_ $$0P:(DE-HGF)0$$aBoesch, Sylvia$$b24
000137436 7001_ $$0P:(DE-HGF)0$$aSzymanski, Sandra$$b25
000137436 7001_ $$0P:(DE-HGF)0$$aBerciano, José$$b26
000137436 7001_ $$0P:(DE-HGF)0$$aInfante, Jon$$b27
000137436 7001_ $$0P:(DE-HGF)0$$aBuerk, Katrin$$b28
000137436 7001_ $$0P:(DE-HGF)0$$aMasciullo, Marcella$$b29
000137436 7001_ $$0P:(DE-HGF)0$$aDi Fabio, Roberto$$b30
000137436 7001_ $$0P:(DE-HGF)0$$aDepondt, Chantal$$b31
000137436 7001_ $$0P:(DE-HGF)0$$aRatka, Susanne$$b32
000137436 7001_ $$0P:(DE-HGF)0$$aStevanin, Giovanni$$b33
000137436 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b34$$udzne
000137436 7001_ $$0P:(DE-HGF)0$$aBrice, Alexis$$b35
000137436 7001_ $$0P:(DE-HGF)0$$aGolmard, Jean-Louis$$b36
000137436 77318 $$2Crossref$$3journal-article$$a10.1136/jmedgenet-2013-102200$$b : BMJ, 2014-04-29$$n7$$p479-486$$tJournal of Medical Genetics$$v51$$x0022-2593$$y2014
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