Predictors of progression in patients with Friedreich ataxia
Identifieur interne : 000431 ( Pmc/Checkpoint ); précédent : 000430; suivant : 000432Predictors of progression in patients with Friedreich ataxia
Auteurs : Alison La Pean [États-Unis] ; Neal Jeffries [États-Unis] ; Chelsea Grow [États-Unis] ; Bernard Ravina [États-Unis] ; Nicholas A. Di Prospero [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2008.
Abstract
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.
Url:
DOI: 10.1002/mds.22248
PubMed: 18759347
PubMed Central: 2579318
Affiliations:
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<front><div type="abstract" xml:lang="en"><p id="P1">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.</p>
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Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892-3705</aff>
<aff id="A2"><label>2</label>
Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, 10 Center Drive, Bethesda, MD 20892</aff>
<aff id="A3"><label>3</label>
Memorial Neurosciences, 1340 Broad Avenue, Suite 440, Gulfport, MS 39501</aff>
<aff id="A4"><label>4</label>
Department of Neurology, University of Rochester Medical Center, Rochester, NY 14627</aff>
<author-notes><corresp id="CR1"><bold>To whom correspondence should be addressed</bold>
: Alison La Pean, MS, CGC Neurogenetics Branch, NINDS 35 Convent Drive Building 35, Room 2A-114 Bethesda, MD 20892-3705 Phone: (301) 496-8969 Fax: (301) 480-0056 Email: <email>lapeana@ninds.nih.gov</email>
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<volume>23</volume>
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<abstract><p id="P1">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.</p>
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