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| 001 | 137436 | ||
| 005 | 20240321220240.0 | ||
| 024 | 7 | _ | |a 10.1136/jmedgenet-2013-102200 |2 doi |
| 024 | 7 | _ | |a pmid:24780882 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC4078703 |2 pmc |
| 024 | 7 | _ | |a 0022-2593 |2 ISSN |
| 024 | 7 | _ | |a 1468-6244 |2 ISSN |
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| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Tezenas du Montcel, Sophie |0 P:(DE-HGF)0 |b 0 |e Corresponding author |
| 245 | _ | _ | |a Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. |
| 260 | _ | _ | |a London |c 2014 |b BMJ Publishing Group |
| 264 | _ | 1 | |3 online |2 Crossref |b BMJ |c 2014-04-29 |
| 264 | _ | 1 | |3 print |2 Crossref |b BMJ |c 2014-07-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1585215238_28192 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a The 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. |
| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 0 |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 1 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 2 | |a Adult |2 MeSH |
| 650 | _ | 2 | |a Age of Onset |2 MeSH |
| 650 | _ | 2 | |a Algorithms |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Genotype |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Middle Aged |2 MeSH |
| 650 | _ | 2 | |a Models, Genetic |2 MeSH |
| 650 | _ | 2 | |a Models, Statistical |2 MeSH |
| 650 | _ | 2 | |a Spinocerebellar Ataxias: epidemiology |2 MeSH |
| 650 | _ | 2 | |a Spinocerebellar Ataxias: genetics |2 MeSH |
| 700 | 1 | _ | |a Durr, Alexandra |0 P:(DE-HGF)0 |b 1 |
| 700 | 1 | _ | |a Rakowicz, Maria |0 P:(DE-HGF)0 |b 2 |
| 700 | 1 | _ | |a Nanetti, Lorenzo |0 P:(DE-HGF)0 |b 3 |
| 700 | 1 | _ | |a Charles, Perrine |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Sulek, Anna |0 P:(DE-HGF)0 |b 5 |
| 700 | 1 | _ | |a Mariotti, Caterina |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Rola, Rafal |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a Schols, Ludger |0 P:(DE-2719)2810795 |b 8 |u dzne |
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| 700 | 1 | _ | |a Forlani, Sylvie |0 P:(DE-HGF)0 |b 12 |
| 700 | 1 | _ | |a Schmitz-Hübsch, Tanja |0 P:(DE-HGF)0 |b 13 |
| 700 | 1 | _ | |a Filla, Alessandro |0 P:(DE-HGF)0 |b 14 |
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| 700 | 1 | _ | |a van de Warrenburg, Bart P |0 P:(DE-HGF)0 |b 16 |
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| 700 | 1 | _ | |a Golmard, Jean-Louis |0 P:(DE-HGF)0 |b 36 |
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