AustralieFrV1, Ncbi, Merge, bibRecord, 002F16

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Identifieur interne : 002F16 ( Ncbi/Merge ); précédent : 002F15; suivant : 002F17

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

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Le document en format XML

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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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<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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<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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<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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<placeName><region type="state">Pennsylvanie</region>
</placeName>
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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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<country xml:lang="fr">France</country>
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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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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, University College London Institute of Neurology, London</wicri:regionArea>
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<region type="country">Angleterre</region>
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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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<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>
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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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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience, University College London Institute of Neurology, London</wicri:regionArea>
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<region type="région" nuts="1">Grand Londres</region>
</placeName>
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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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<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>
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<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
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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>
<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>
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<series><title level="j">Annals of neurology</title>
<idno type="eISSN">1531-8249</idno>
<imprint><date when="2016" type="published">2016</date>
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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>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26704351</PMID>
<DateCreated><Year>2016</Year>
<Month>03</Month>
<Day>12</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>07</Month>
<Day>19</Day>
</DateCompleted>
<DateRevised><Year>2016</Year>
<Month>03</Month>
<Day>12</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8249</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>79</Volume>
<Issue>3</Issue>
<PubDate><Year>2016</Year>
<Month>Mar</Month>
</PubDate>
</JournalIssue>
<Title>Annals of neurology</Title>
<ISOAbbreviation>Ann. Neurol.</ISOAbbreviation>
</Journal>
<ArticleTitle>Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.</ArticleTitle>
<Pagination><MedlinePgn>485-95</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/ana.24595</ELocationID>
<Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">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.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We compared clinical information from 111 compound heterozygotes and 131 individuals with homozygous expansions. Frataxin mutations were examined using structural modeling, stability analyses and systematic literature review, and categorized into four groups: (1) homozygous expansions, and three compound heterozygote groups; (2) null (no frataxin produced); (3) moderate/strong impact; and (4) minimal impact. Mean age of onset and the presence of cardiomyopathy and diabetes mellitus were compared using regression analyses.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Mutations in the hydrophobic core of frataxin affected stability whereas surface residue mutations affected interactions with iron sulfur cluster assembly and heme biosynthetic proteins. The null group of compound heterozygotes had significantly earlier age of onset and increased diabetes mellitus, compared to the homozygous expansion group. There were no significant differences in mean age of onset between homozygotes and the minimal and moderate/strong impact groups.</AbstractText>
<AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele. This integrated analysis of categorized frataxin mutations and their correlation with clinical outcome provide a definitive resource for investigating disease pathogenesis in FRDA.</AbstractText>
<CopyrightInformation>© 2016 American Neurological Association.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Galea</LastName>
<ForeName>Charles A</ForeName>
<Initials>CA</Initials>
<AffiliationInfo><Affiliation>Medicinal Chemistry and Drug Delivery, Disposition and Dynamics (D4), Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Huq</LastName>
<ForeName>Aamira</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lockhart</LastName>
<ForeName>Paul J</ForeName>
<Initials>PJ</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Tai</LastName>
<ForeName>Geneieve</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Corben</LastName>
<ForeName>Louise A</ForeName>
<Initials>LA</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>School of Psychological Sciences, Monash University, Clayton, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yiu</LastName>
<ForeName>Eppie M</ForeName>
<Initials>EM</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gurrin</LastName>
<ForeName>Lyle C</ForeName>
<Initials>LC</Initials>
<AffiliationInfo><Affiliation>Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lynch</LastName>
<ForeName>David R</ForeName>
<Initials>DR</Initials>
<AffiliationInfo><Affiliation>Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gelbard</LastName>
<ForeName>Sarah</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine and The Children's Hospital of Philadelphia, Philadelphia, PA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Durr</LastName>
<ForeName>Alexandra</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>APHP, Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institut du Cerveau et de la Moelle épinière (ICM), Pitié-Salpêtrière University Hospital, Paris, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S_1127, ICM, F-75013, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pousset</LastName>
<ForeName>Francoise</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>APHP, Cardiology Department, AP-HP Pitie-Salpétrière Hospital, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Parkinson</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Labrum</LastName>
<ForeName>Robyn</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Department of Neurogenetics, University College London Hospital, Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Giunti</LastName>
<ForeName>Paola</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Neurogenetics, University College London Hospital, Institute of Neurology, London, United Kingdom.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Perlman</LastName>
<ForeName>Susan L</ForeName>
<Initials>SL</Initials>
<AffiliationInfo><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.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Delatycki</LastName>
<ForeName>Martin B</ForeName>
<Initials>MB</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>School of Psychological Sciences, Monash University, Clayton, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Evans-Galea</LastName>
<ForeName>Marguerite V</ForeName>
<Initials>MV</Initials>
<AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Ann Neurol</MedlineTA>
<NlmUniqueID>7707449</NlmUniqueID>
<ISSNLinking>0364-5134</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D033862">Iron-Binding Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C098527">frataxin</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017677" MajorTopicYN="N">Age Distribution</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015984" MajorTopicYN="N">Causality</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015897" MajorTopicYN="N">Comorbidity</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D003920" MajorTopicYN="N">Diabetes Mellitus</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005621" MajorTopicYN="N">Friedreich Ataxia</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005819" MajorTopicYN="N">Genetic Markers</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D015994" MajorTopicYN="N">Incidence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D033862" MajorTopicYN="N">Iron-Binding Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D019656" MajorTopicYN="N">Loss of Heterozygosity</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D011379" MajorTopicYN="N">Prognosis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017678" MajorTopicYN="N">Sex Distribution</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D014739" MajorTopicYN="N" Type="Geographic">Victoria</DescriptorName>
<QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year>
<Month>09</Month>
<Day>07</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised"><Year>2015</Year>
<Month>12</Month>
<Day>16</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2015</Year>
<Month>12</Month>
<Day>17</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2015</Year>
<Month>12</Month>
<Day>26</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2015</Year>
<Month>12</Month>
<Day>26</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2016</Year>
<Month>7</Month>
<Day>20</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">26704351</ArticleId>
<ArticleId IdType="doi">10.1002/ana.24595</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<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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Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

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