AustralieFrV1, Main, Exploration, bibRecord, 002185

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Identifieur interne : 002185 ( Main/Exploration ); précédent : 002184; suivant : 002186

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Auteurs : Charles A. Galea [Australie] ; Aamira Huq [Australie] ; Paul J. Lockhart [Australie] ; Geneieve Tai [Australie] ; Louise A. Corben [Australie] ; Eppie M. Yiu [Australie] ; Lyle C. Gurrin [Australie] ; David R. Lynch [États-Unis] ; Sarah Gelbard [États-Unis] ; Alexandra Durr [France] ; Francoise Pousset [France] ; Michael Parkinson [Royaume-Uni] ; Robyn Labrum [Royaume-Uni] ; Paola Giunti [Royaume-Uni] ; Susan L. Perlman [États-Unis] ; Martin B. Delatycki [Australie] ; Marguerite V. Evans-Galea [Australie]

Source :

Annals of neurology [ 1531-8249 ] ; 2016.

RBID : pubmed:26704351

Descripteurs français

English descriptors

KwdEn :
- Adolescent, Adult, Age Distribution, Causality, Child, Child, Preschool, Comorbidity, Diabetes Mellitus (epidemiology), Diabetes Mellitus (genetics), Female, Friedreich Ataxia (epidemiology), Friedreich Ataxia (genetics), Genetic Markers (genetics), Genetic Predisposition to Disease (epidemiology), Genetic Predisposition to Disease (genetics), Humans, Incidence, Infant, Iron-Binding Proteins (genetics), Loss of Heterozygosity (genetics), Male, Prognosis, Risk Factors, Sex Distribution, Victoria (epidemiology), Young Adult.
MESH :
- chemical , genetics : Genetic Markers, Iron-Binding Proteins.
- geographic , epidemiology : Victoria.
- epidemiology : Diabetes Mellitus, Friedreich Ataxia, Genetic Predisposition to Disease.
- genetics : Diabetes Mellitus, Friedreich Ataxia, Genetic Predisposition to Disease, Loss of Heterozygosity.
- Adolescent, Adult, Age Distribution, Causality, Child, Child, Preschool, Comorbidity, Female, Humans, Incidence, Infant, Male, Prognosis, Risk Factors, Sex Distribution, Young Adult.

Abstract

Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxin expression. Remaining individuals are compound heterozygous for a GAA expansion and a FXN point/insertion/deletion mutation. We examined disease-causing mutations and the impact on frataxin structure/function and clinical outcome in FRDA.

DOI: 10.1002/ana.24595
PubMed: 26704351

Affiliations:

Le document en format XML

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<author><name sortKey="Gelbard, Sarah" sort="Gelbard, Sarah" uniqKey="Gelbard S" first="Sarah" last="Gelbard">Sarah Gelbard</name>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<author><name sortKey="Pousset, Francoise" sort="Pousset, Francoise" uniqKey="Pousset F" first="Francoise" last="Pousset">Francoise Pousset</name>
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<author><name sortKey="Parkinson, Michael" sort="Parkinson, Michael" uniqKey="Parkinson M" first="Michael" last="Parkinson">Michael Parkinson</name>
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<author><name sortKey="Labrum, Robyn" sort="Labrum, Robyn" uniqKey="Labrum R" first="Robyn" last="Labrum">Robyn Labrum</name>
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<region type="région" nuts="1">Grand Londres</region>
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<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
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<author><name sortKey="Perlman, Susan L" sort="Perlman, Susan L" uniqKey="Perlman S" first="Susan L" last="Perlman">Susan L. Perlman</name>
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<author><name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B" last="Delatycki">Martin B. Delatycki</name>
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<author><name sortKey="Evans Galea, Marguerite V" sort="Evans Galea, Marguerite V" uniqKey="Evans Galea M" first="Marguerite V" last="Evans-Galea">Marguerite V. Evans-Galea</name>
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<country xml:lang="fr">Australie</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.</title>
<author><name sortKey="Galea, Charles A" sort="Galea, Charles A" uniqKey="Galea C" first="Charles A" last="Galea">Charles A. Galea</name>
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<author><name sortKey="Huq, Aamira" sort="Huq, Aamira" uniqKey="Huq A" first="Aamira" last="Huq">Aamira Huq</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Tai, Geneieve" sort="Tai, Geneieve" uniqKey="Tai G" first="Geneieve" last="Tai">Geneieve Tai</name>
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<country xml:lang="fr">Australie</country>
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<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
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<author><name sortKey="Corben, Louise A" sort="Corben, Louise A" uniqKey="Corben L" first="Louise A" last="Corben">Louise A. Corben</name>
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<country xml:lang="fr">Australie</country>
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<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
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<author><name sortKey="Yiu, Eppie M" sort="Yiu, Eppie M" uniqKey="Yiu E" first="Eppie M" last="Yiu">Eppie M. Yiu</name>
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</affiliation>
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<author><name sortKey="Gurrin, Lyle C" sort="Gurrin, Lyle C" uniqKey="Gurrin L" first="Lyle C" last="Gurrin">Lyle C. Gurrin</name>
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<author><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name>
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<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
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<author><name sortKey="Gelbard, Sarah" sort="Gelbard, Sarah" uniqKey="Gelbard S" first="Sarah" last="Gelbard">Sarah Gelbard</name>
<affiliation wicri:level="2"><nlm:affiliation>Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
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<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
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<author><name sortKey="Pousset, Francoise" sort="Pousset, Francoise" uniqKey="Pousset F" first="Francoise" last="Pousset">Francoise Pousset</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Parkinson, Michael" sort="Parkinson, Michael" uniqKey="Parkinson M" first="Michael" last="Parkinson">Michael Parkinson</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, University College London Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Labrum, Robyn" sort="Labrum, Robyn" uniqKey="Labrum R" first="Robyn" last="Labrum">Robyn Labrum</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurogenetics, University College London Hospital, Institute of Neurology, London, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurogenetics, University College London Hospital, Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, University College London Institute of Neurology, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Perlman, Susan L" sort="Perlman, Susan L" uniqKey="Perlman S" first="Susan L" last="Perlman">Susan L. Perlman</name>
<affiliation wicri:level="2"><nlm:affiliation>Ataxia Center and Huntington Disease Center of Excellence, Department of Neurology, David Geffen School of Medicine at the University of California at Los Angeles, CA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Ataxia Center and Huntington Disease Center of Excellence, Department of Neurology, David Geffen School of Medicine at the University of California at Los Angeles</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B" last="Delatycki">Martin B. Delatycki</name>
<affiliation wicri:level="1"><nlm:affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Evans Galea, Marguerite V" sort="Evans Galea, Marguerite V" uniqKey="Evans Galea M" first="Marguerite V" last="Evans-Galea">Marguerite V. Evans-Galea</name>
<affiliation wicri:level="1"><nlm:affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
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<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
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<series><title level="j">Annals of neurology</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Distribution</term>
<term>Causality</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Comorbidity</term>
<term>Diabetes Mellitus (epidemiology)</term>
<term>Diabetes Mellitus (genetics)</term>
<term>Female</term>
<term>Friedreich Ataxia (epidemiology)</term>
<term>Friedreich Ataxia (genetics)</term>
<term>Genetic Markers (genetics)</term>
<term>Genetic Predisposition to Disease (epidemiology)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Incidence</term>
<term>Infant</term>
<term>Iron-Binding Proteins (genetics)</term>
<term>Loss of Heterozygosity (genetics)</term>
<term>Male</term>
<term>Prognosis</term>
<term>Risk Factors</term>
<term>Sex Distribution</term>
<term>Victoria (epidemiology)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Ataxie de Friedreich (génétique)</term>
<term>Ataxie de Friedreich (épidémiologie)</term>
<term>Causalité</term>
<term>Comorbidité</term>
<term>Diabète (génétique)</term>
<term>Diabète (épidémiologie)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Facteurs de risque</term>
<term>Femelle</term>
<term>Humains</term>
<term>Incidence</term>
<term>Jeune adulte</term>
<term>Marqueurs génétiques (génétique)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Perte d'hétérozygotie (génétique)</term>
<term>Pronostic</term>
<term>Protéines de liaison au fer (génétique)</term>
<term>Prédisposition génétique à une maladie (génétique)</term>
<term>Prédisposition génétique à une maladie (épidémiologie)</term>
<term>Répartition par sexe</term>
<term>Répartition par âge</term>
<term>Victoria (épidémiologie)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term>
<term>Iron-Binding Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Victoria</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Diabetes Mellitus</term>
<term>Friedreich Ataxia</term>
<term>Genetic Predisposition to Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Diabetes Mellitus</term>
<term>Friedreich Ataxia</term>
<term>Genetic Predisposition to Disease</term>
<term>Loss of Heterozygosity</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Ataxie de Friedreich</term>
<term>Diabète</term>
<term>Marqueurs génétiques</term>
<term>Perte d'hétérozygotie</term>
<term>Protéines de liaison au fer</term>
<term>Prédisposition génétique à une maladie</term>
</keywords>
<keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Ataxie de Friedreich</term>
<term>Diabète</term>
<term>Prédisposition génétique à une maladie</term>
<term>Victoria</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age Distribution</term>
<term>Causality</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Comorbidity</term>
<term>Female</term>
<term>Humans</term>
<term>Incidence</term>
<term>Infant</term>
<term>Male</term>
<term>Prognosis</term>
<term>Risk Factors</term>
<term>Sex Distribution</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Causalité</term>
<term>Comorbidité</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Facteurs de risque</term>
<term>Femelle</term>
<term>Humains</term>
<term>Incidence</term>
<term>Jeune adulte</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pronostic</term>
<term>Répartition par sexe</term>
<term>Répartition par âge</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Friedreich ataxia (FRDA) is an inherited neurodegenerative disease characterized by ataxia and cardiomyopathy. Homozygous GAA trinucleotide repeat expansions in the first intron of FXN occur in 96% of affected individuals and reduce frataxin expression. Remaining individuals are compound heterozygous for a GAA expansion and a FXN point/insertion/deletion mutation. We examined disease-causing mutations and the impact on frataxin structure/function and clinical outcome in FRDA.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Californie</li>
<li>Grand Londres</li>
<li>Pennsylvanie</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Londres</li>
<li>Melbourne</li>
<li>Paris</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Galea, Charles A" sort="Galea, Charles A" uniqKey="Galea C" first="Charles A" last="Galea">Charles A. Galea</name>
</noRegion>
<name sortKey="Corben, Louise A" sort="Corben, Louise A" uniqKey="Corben L" first="Louise A" last="Corben">Louise A. Corben</name>
<name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B" last="Delatycki">Martin B. Delatycki</name>
<name sortKey="Evans Galea, Marguerite V" sort="Evans Galea, Marguerite V" uniqKey="Evans Galea M" first="Marguerite V" last="Evans-Galea">Marguerite V. Evans-Galea</name>
<name sortKey="Gurrin, Lyle C" sort="Gurrin, Lyle C" uniqKey="Gurrin L" first="Lyle C" last="Gurrin">Lyle C. Gurrin</name>
<name sortKey="Huq, Aamira" sort="Huq, Aamira" uniqKey="Huq A" first="Aamira" last="Huq">Aamira Huq</name>
<name sortKey="Lockhart, Paul J" sort="Lockhart, Paul J" uniqKey="Lockhart P" first="Paul J" last="Lockhart">Paul J. Lockhart</name>
<name sortKey="Tai, Geneieve" sort="Tai, Geneieve" uniqKey="Tai G" first="Geneieve" last="Tai">Geneieve Tai</name>
<name sortKey="Yiu, Eppie M" sort="Yiu, Eppie M" uniqKey="Yiu E" first="Eppie M" last="Yiu">Eppie M. Yiu</name>
</country>
<country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Lynch, David R" sort="Lynch, David R" uniqKey="Lynch D" first="David R" last="Lynch">David R. Lynch</name>
</region>
<name sortKey="Gelbard, Sarah" sort="Gelbard, Sarah" uniqKey="Gelbard S" first="Sarah" last="Gelbard">Sarah Gelbard</name>
<name sortKey="Perlman, Susan L" sort="Perlman, Susan L" uniqKey="Perlman S" first="Susan L" last="Perlman">Susan L. Perlman</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name>
</region>
<name sortKey="Pousset, Francoise" sort="Pousset, Francoise" uniqKey="Pousset F" first="Francoise" last="Pousset">Francoise Pousset</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Parkinson, Michael" sort="Parkinson, Michael" uniqKey="Parkinson M" first="Michael" last="Parkinson">Michael Parkinson</name>
</region>
<name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
<name sortKey="Labrum, Robyn" sort="Labrum, Robyn" uniqKey="Labrum R" first="Robyn" last="Labrum">Robyn Labrum</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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