Predictors of progression in patients with Friedreich ataxia
Identifieur interne : 001845 ( Istex/Corpus ); précédent : 001844; suivant : 001846Predictors of progression in patients with Friedreich ataxia
Auteurs : Alison La Pean ; Neal Jeffries ; Chelsea Grow ; Bernard Ravina ; Nicholas A. Di ProsperoSource :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
English descriptors
- KwdEn :
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. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22248
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<affiliation>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA</affiliation>
<description>Correspondence: Neurogenetics Branch, NINDS, 35 Convent Drive, Building 35, Room 2A‐114, Bethesda, MD 20892‐3705</description>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Neal</namePart>
<namePart type="family">Jeffries</namePart>
<namePart type="termsOfAddress">PhD</namePart>
<affiliation>Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Chelsea</namePart>
<namePart type="family">Grow</namePart>
<namePart type="termsOfAddress">DO</namePart>
<affiliation>Memorial Neurosciences, Gulfport, Mississippi, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Bernard</namePart>
<namePart type="family">Ravina</namePart>
<namePart type="termsOfAddress">MD, MSCE</namePart>
<affiliation>Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Nicholas A.</namePart>
<namePart type="family">Di Prospero</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<typeOfResource>text</typeOfResource>
<genre authority="originalCategForm">article</genre>
<originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<place><placeTerm type="text">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2008-10-30</dateIssued>
<dateCaptured encoding="w3cdtf">2007-06-26</dateCaptured>
<dateValid encoding="w3cdtf">2008-07-01</dateValid>
<copyrightDate encoding="w3cdtf">2008</copyrightDate>
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<language><languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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<extent unit="figures">1</extent>
<extent unit="tables">4</extent>
<extent unit="references">24</extent>
<extent unit="words">5275</extent>
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<abstract lang="en">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. © 2008 Movement Disorder Society</abstract>
<note type="content">*Potential conflict of interest: None reported.</note>
<note type="funding">National Institute of Neurological Disorders and Stroke</note>
<subject lang="en"><genre>Keywords</genre>
<topic>Friedreich ataxia</topic>
<topic>genotype</topic>
<topic>phenotype</topic>
<topic>GAA expansion</topic>
<topic>medication</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Movement Disorders</title>
<subTitle>Official Journal of the Movement Disorder Society</subTitle>
</titleInfo>
<titleInfo type="abbreviated"><title>Mov. Disord.</title>
</titleInfo>
<subject><genre>article category</genre>
<topic>Research Article</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2008</date>
<detail type="volume"><caption>vol.</caption>
<number>23</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>14</number>
</detail>
<extent unit="pages"><start>2026</start>
<end>2032</end>
<total>7</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">4114A5D3C6DC7EF365712917777C0686C790C098</identifier>
<identifier type="DOI">10.1002/mds.22248</identifier>
<identifier type="ArticleID">MDS22248</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition>
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<recordContentSource>WILEY</recordContentSource>
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