| pubmed-article:18759347 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18759347 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:18759347 | lifeskim:mentions | umls-concept:C0016719 | lld:lifeskim |
| pubmed-article:18759347 | lifeskim:mentions | umls-concept:C2698872 | lld:lifeskim |
| pubmed-article:18759347 | lifeskim:mentions | umls-concept:C0449258 | lld:lifeskim |
| pubmed-article:18759347 | pubmed:issue | 14 | lld:pubmed |
| pubmed-article:18759347 | pubmed:dateCreated | 2008-11-4 | lld:pubmed |
| pubmed-article:18759347 | pubmed:abstractText | Friedreich ataxia is an inherited, progressive, neurodegenerative disorder that is clinically heterogeneous. It is caused by a trinucleotide (GAA) repeat expansion resulting in frataxin loss and oxidative stress. We assessed clinical features including the development of cardiomyopathy and scoliosis and disease progression including loss of ambulation and interference with activities of daily living relative to the length of the GAA repeat, age of onset, and age of diagnosis in a retrospective cohort study of 61 genetically confirmed patients. The use of antioxidants such as vitamins, dietary supplements, and idebenone was also examined. Linear regression and Cox proportional hazard models assessed predictors to disease milestones. The shorter GAA allele accounted for part of the variability in the age of diagnosis (46%) and less in the age of onset (27%). Multivariate analysis demonstrated that age at diagnosis, which may incorporate other genetic and environmental factors, is more important than GAA length in predicting cardiomyopathy, scoliosis, and disease progression. | lld:pubmed |
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| pubmed-article:18759347 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18759347 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18759347 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:18759347 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18759347 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:18759347 | pubmed:issn | 1531-8257 | lld:pubmed |
| pubmed-article:18759347 | pubmed:author | pubmed-author:JeffriesNealN | lld:pubmed |
| pubmed-article:18759347 | pubmed:author | pubmed-author:RavinaBernard... | lld:pubmed |
| pubmed-article:18759347 | pubmed:author | pubmed-author:La... | lld:pubmed |
| pubmed-article:18759347 | pubmed:author | pubmed-author:Di... | lld:pubmed |
| pubmed-article:18759347 | pubmed:author | pubmed-author:GrowChelseaC | lld:pubmed |
| pubmed-article:18759347 | pubmed:copyrightInfo | (c) 2008 Movement Disorder Society. | lld:pubmed |
| pubmed-article:18759347 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18759347 | pubmed:day | 30 | lld:pubmed |
| pubmed-article:18759347 | pubmed:volume | 23 | lld:pubmed |
| pubmed-article:18759347 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18759347 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18759347 | pubmed:pagination | 2026-32 | lld:pubmed |
| pubmed-article:18759347 | pubmed:dateRevised | 2010-9-21 | lld:pubmed |
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| pubmed-article:18759347 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18759347 | pubmed:articleTitle | Predictors of progression in patients with Friedreich ataxia. | lld:pubmed |
| pubmed-article:18759347 | pubmed:affiliation | Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892-3705, USA. lapeana@ninds.nih.gov | lld:pubmed |
| pubmed-article:18759347 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18759347 | pubmed:publicationType | Research Support, N.I.H., Intramural | lld:pubmed |
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