Predictors of progression in patients with Friedreich ataxia
Identifieur interne : 002678 ( Main/Exploration ); précédent : 002677; suivant : 002679Predictors 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 [ 0885-3185 ] ; 2008-10-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Cardiomyopathies (etiology), Chemotherapy, Child, Child, Preschool, Confidence Intervals, Dietary Supplements, Disease Progression, Female, Friedreich Ataxia (complications), Friedreich Ataxia (diagnosis), Friedreich Ataxia (genetics), Friedreich Ataxia (therapy), Friedreich ataxia, GAA expansion, Genotype, Human, Humans, Interview, Psychological, Male, Membrane Glycoproteins (genetics), Middle Aged, Multivariate Analysis, Nervous system diseases, Phenotype, Predictive Value of Tests, Risk Factors, Scoliosis (etiology), Vitamins (administration & dosage), Young Adult, genotype, medication, phenotype.
- MESH :
- chemical , administration & dosage : Vitamins.
- chemical , genetics : Membrane Glycoproteins.
- complications : Friedreich Ataxia.
- diagnosis : Friedreich Ataxia.
- etiology : Cardiomyopathies, Scoliosis.
- genetics : Friedreich Ataxia.
- therapy : Friedreich Ataxia.
- Adolescent, Adult, Aged, Child, Child, Preschool, Confidence Intervals, Dietary Supplements, Disease Progression, Female, Humans, Interview, Psychological, Male, Middle Aged, Multivariate Analysis, Predictive Value of Tests, Risk Factors, Young Adult.
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
Url:
- https://api.istex.fr/document/4114A5D3C6DC7EF365712917777C0686C790C098/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579318
DOI: 10.1002/mds.22248
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001845
- to stream Istex, to step Curation: 001845
- to stream Istex, to step Checkpoint: 001234
- to stream Pmc, to step Corpus: 000033
- to stream Pmc, to step Curation: 000033
- to stream Pmc, to step Checkpoint: 000431
- to stream PubMed, to step Corpus: 002078
- to stream PubMed, to step Curation: 002078
- to stream PubMed, to step Checkpoint: 002129
- to stream Ncbi, to step Merge: 002285
- to stream Ncbi, to step Curation: 002285
- to stream Ncbi, to step Checkpoint: 002285
- to stream Main, to step Merge: 003256
- to stream PascalFrancis, to step Corpus: 001055
- to stream PascalFrancis, to step Curation: 001C64
- to stream PascalFrancis, to step Checkpoint: 001128
- to stream Main, to step Merge: 003736
- to stream Main, to step Curation: 002678
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Predictors of progression in patients with Friedreich ataxia</title>
<author><name sortKey="La Pean, Alison" sort="La Pean, Alison" uniqKey="La Pean A" first="Alison" last="La Pean">Alison La Pean</name>
</author>
<author><name sortKey="Jeffries, Neal" sort="Jeffries, Neal" uniqKey="Jeffries N" first="Neal" last="Jeffries">Neal Jeffries</name>
</author>
<author><name sortKey="Grow, Chelsea" sort="Grow, Chelsea" uniqKey="Grow C" first="Chelsea" last="Grow">Chelsea Grow</name>
</author>
<author><name sortKey="Ravina, Bernard" sort="Ravina, Bernard" uniqKey="Ravina B" first="Bernard" last="Ravina">Bernard Ravina</name>
</author>
<author><name sortKey="Di Prospero, Nicholas A" sort="Di Prospero, Nicholas A" uniqKey="Di Prospero N" first="Nicholas A." last="Di Prospero">Nicholas A. Di Prospero</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:4114A5D3C6DC7EF365712917777C0686C790C098</idno>
<date when="2008" year="2008">2008</date>
<idno type="doi">10.1002/mds.22248</idno>
<idno type="url">https://api.istex.fr/document/4114A5D3C6DC7EF365712917777C0686C790C098/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001845</idno>
<idno type="wicri:Area/Istex/Curation">001845</idno>
<idno type="wicri:Area/Istex/Checkpoint">001234</idno>
<idno type="wicri:doubleKey">0885-3185:2008:La Pean A:predictors:of:progression</idno>
<idno type="wicri:source">PMC</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2579318</idno>
<idno type="RBID">PMC:2579318</idno>
<idno type="wicri:Area/Pmc/Corpus">000033</idno>
<idno type="wicri:Area/Pmc/Curation">000033</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000431</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">002078</idno>
<idno type="wicri:Area/PubMed/Curation">002078</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002129</idno>
<idno type="wicri:Area/Ncbi/Merge">002285</idno>
<idno type="wicri:Area/Ncbi/Curation">002285</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002285</idno>
<idno type="wicri:doubleKey">0885-3185:2008:Pean A:predictors:of:progression</idno>
<idno type="wicri:Area/Main/Merge">003256</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:08-0536688</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001055</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001C64</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001128</idno>
<idno type="wicri:doubleKey">0885-3185:2008:La Pean A:predictors:of:progression</idno>
<idno type="wicri:Area/Main/Merge">003736</idno>
<idno type="wicri:Area/Main/Curation">002678</idno>
<idno type="wicri:Area/Main/Exploration">002678</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Predictors of progression in patients with Friedreich ataxia</title>
<author><name sortKey="La Pean, Alison" sort="La Pean, Alison" uniqKey="La Pean A" first="Alison" last="La Pean">Alison La Pean</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jeffries, Neal" sort="Jeffries, Neal" uniqKey="Jeffries N" first="Neal" last="Jeffries">Neal Jeffries</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Grow, Chelsea" sort="Grow, Chelsea" uniqKey="Grow C" first="Chelsea" last="Grow">Chelsea Grow</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Memorial Neurosciences, Gulfport, Mississippi</wicri:regionArea>
<placeName><region type="state">État du Mississippi</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ravina, Bernard" sort="Ravina, Bernard" uniqKey="Ravina B" first="Bernard" last="Ravina">Bernard Ravina</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Rochester Medical Center, Rochester, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Di Prospero, Nicholas A" sort="Di Prospero, Nicholas A" uniqKey="Di Prospero N" first="Nicholas A." last="Di Prospero">Nicholas A. Di Prospero</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2008-10-30">2008-10-30</date>
<biblScope unit="vol">23</biblScope>
<biblScope unit="issue">14</biblScope>
<biblScope unit="page" from="2026">2026</biblScope>
<biblScope unit="page" to="2032">2032</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">4114A5D3C6DC7EF365712917777C0686C790C098</idno>
<idno type="DOI">10.1002/mds.22248</idno>
<idno type="ArticleID">MDS22248</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Cardiomyopathies (etiology)</term>
<term>Chemotherapy</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Confidence Intervals</term>
<term>Dietary Supplements</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Friedreich Ataxia (complications)</term>
<term>Friedreich Ataxia (diagnosis)</term>
<term>Friedreich Ataxia (genetics)</term>
<term>Friedreich Ataxia (therapy)</term>
<term>Friedreich ataxia</term>
<term>GAA expansion</term>
<term>Genotype</term>
<term>Human</term>
<term>Humans</term>
<term>Interview, Psychological</term>
<term>Male</term>
<term>Membrane Glycoproteins (genetics)</term>
<term>Middle Aged</term>
<term>Multivariate Analysis</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
<term>Predictive Value of Tests</term>
<term>Risk Factors</term>
<term>Scoliosis (etiology)</term>
<term>Vitamins (administration & dosage)</term>
<term>Young Adult</term>
<term>genotype</term>
<term>medication</term>
<term>phenotype</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Vitamins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Glycoproteins</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cardiomyopathies</term>
<term>Scoliosis</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Friedreich Ataxia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Confidence Intervals</term>
<term>Dietary Supplements</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Humans</term>
<term>Interview, Psychological</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Multivariate Analysis</term>
<term>Predictive Value of Tests</term>
<term>Risk Factors</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Chimiothérapie</term>
<term>Génotype</term>
<term>Homme</term>
<term>Hérédodégénérescence spinocérébelleuse de Friedreich</term>
<term>Pathologie du système nerveux</term>
<term>Phénotype</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml: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</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Maryland</li>
<li>État de New York</li>
<li>État du Mississippi</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Maryland"><name sortKey="La Pean, Alison" sort="La Pean, Alison" uniqKey="La Pean A" first="Alison" last="La Pean">Alison La Pean</name>
</region>
<name sortKey="Di Prospero, Nicholas A" sort="Di Prospero, Nicholas A" uniqKey="Di Prospero N" first="Nicholas A." last="Di Prospero">Nicholas A. Di Prospero</name>
<name sortKey="Grow, Chelsea" sort="Grow, Chelsea" uniqKey="Grow C" first="Chelsea" last="Grow">Chelsea Grow</name>
<name sortKey="Jeffries, Neal" sort="Jeffries, Neal" uniqKey="Jeffries N" first="Neal" last="Jeffries">Neal Jeffries</name>
<name sortKey="Ravina, Bernard" sort="Ravina, Bernard" uniqKey="Ravina B" first="Bernard" last="Ravina">Bernard Ravina</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002678 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002678 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:4114A5D3C6DC7EF365712917777C0686C790C098 |texte= Predictors of progression in patients with Friedreich ataxia }}
This area was generated with Dilib version V0.6.23. |