Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Identifieur interne : 003B95 ( Main/Merge ); précédent : 003B94; suivant : 003B96Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Auteurs : Ruth H. Walker [États-Unis] ; Hans H. Jung [Suisse] ; François Tison [France] ; Soohee Lee [États-Unis] ; Adrian Danek [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
- KwdEn :
- Adult, Age Factors, Amino Acid Transport Systems, Neutral (genetics), Atrial Fibrillation (complications), Atrial Fibrillation (pathology), Atrial Fibrillation (physiopathology), Brain (pathology), Central Nervous System Diseases (complications), Central Nervous System Diseases (genetics), Central Nervous System Diseases (pathology), Chorea (genetics), Chorea (pathology), Chromosomes, Human, X (genetics), Genetic Variation (genetics), Genotype, Humans, Magnetic Resonance Imaging, Male, McLeod syndrome, Muscle Weakness (physiopathology), Muscle, Skeletal (pathology), Muscle, Skeletal (physiopathology), Myocardium (pathology), Peripheral Nervous System Diseases (complications), Peripheral Nervous System Diseases (genetics), Peripheral Nervous System Diseases (pathology), Phenotype, Siblings, Syndrome, chorea, neuroacanthocytosis.
- MESH :
- chemical , genetics : Amino Acid Transport Systems, Neutral.
- complications : Atrial Fibrillation, Central Nervous System Diseases, Peripheral Nervous System Diseases.
- genetics : Central Nervous System Diseases, Chorea, Chromosomes, Human, X, Genetic Variation, Peripheral Nervous System Diseases.
- pathology : Atrial Fibrillation, Brain, Central Nervous System Diseases, Chorea, Muscle, Skeletal, Myocardium, Peripheral Nervous System Diseases.
- physiopathology : Atrial Fibrillation, Muscle Weakness, Muscle, Skeletal.
- Adult, Age Factors, Genotype, Humans, Magnetic Resonance Imaging, Male, Phenotype, Siblings, Syndrome.
Abstract
McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21224
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Jung</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21224</idno><idno type="url">https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F56</idno><idno type="wicri:Area/Istex/Curation">002F56</idno><idno type="wicri:Area/Istex/Checkpoint">001781</idno><idno type="wicri:doubleKey">0885-3185:2007:Walker R:phenotypic:variation:among</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:17133513</idno><idno type="wicri:Area/PubMed/Corpus">002965</idno><idno type="wicri:Area/PubMed/Curation">002965</idno><idno type="wicri:Area/PubMed/Checkpoint">002644</idno><idno type="wicri:Area/Ncbi/Merge">001974</idno><idno type="wicri:Area/Ncbi/Curation">001974</idno><idno type="wicri:Area/Ncbi/Checkpoint">001974</idno><idno type="wicri:doubleKey">0885-3185:2007:Walker R:phenotypic:variation:among</idno><idno type="wicri:Area/Main/Merge">003B95</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. 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Kimball Research Institute, New York Blood Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></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="2007-01-15">2007-01-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="244">244</biblScope><biblScope unit="page" to="247">247</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><idno type="DOI">10.1002/mds.21224</idno><idno type="ArticleID">MDS21224</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Amino Acid Transport Systems, Neutral (genetics)</term><term>Atrial Fibrillation (complications)</term><term>Atrial Fibrillation (pathology)</term><term>Atrial Fibrillation (physiopathology)</term><term>Brain (pathology)</term><term>Central Nervous System Diseases (complications)</term><term>Central Nervous System Diseases (genetics)</term><term>Central Nervous System Diseases (pathology)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>Chromosomes, Human, X (genetics)</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>McLeod syndrome</term><term>Muscle Weakness (physiopathology)</term><term>Muscle, Skeletal (pathology)</term><term>Muscle, Skeletal (physiopathology)</term><term>Myocardium (pathology)</term><term>Peripheral Nervous System Diseases (complications)</term><term>Peripheral Nervous System Diseases (genetics)</term><term>Peripheral Nervous System Diseases (pathology)</term><term>Phenotype</term><term>Siblings</term><term>Syndrome</term><term>chorea</term><term>neuroacanthocytosis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acid Transport Systems, Neutral</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Atrial Fibrillation</term><term>Central Nervous System Diseases</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Central Nervous System Diseases</term><term>Chorea</term><term>Chromosomes, Human, X</term><term>Genetic Variation</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrial Fibrillation</term><term>Brain</term><term>Central Nervous System Diseases</term><term>Chorea</term><term>Muscle, Skeletal</term><term>Myocardium</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Atrial Fibrillation</term><term>Muscle Weakness</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Phenotype</term><term>Siblings</term><term>Syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.21224"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21224</idno><idno type="url">https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F56</idno><idno type="wicri:Area/Istex/Curation">002F56</idno><idno type="wicri:Area/Istex/Checkpoint">001781</idno><idno type="wicri:doubleKey">0885-3185:2007:Walker R:phenotypic:variation:among</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Neurology, University Hospital Zurich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux</wicri:regionArea><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></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="2007-01-15">2007-01-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="244">244</biblScope><biblScope unit="page" to="247">247</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><idno type="DOI">10.1002/mds.21224</idno><idno type="ArticleID">MDS21224</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>McLeod syndrome</term><term>chorea</term><term>neuroacanthocytosis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. Walker</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468</wicri:regionArea><wicri:noRegion>New York 10468</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21224</idno><idno type="RBID">pubmed:17133513</idno><idno type="pmid">17133513</idno><idno type="wicri:Area/PubMed/Corpus">002965</idno><idno type="wicri:Area/PubMed/Curation">002965</idno><idno type="wicri:Area/PubMed/Checkpoint">002644</idno><idno type="wicri:Area/Ncbi/Merge">001974</idno><idno type="wicri:Area/Ncbi/Curation">001974</idno><idno type="wicri:Area/Ncbi/Checkpoint">001974</idno><idno type="wicri:doubleKey">0885-3185:2007:Walker R:phenotypic:variation:among</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. Walker</name><affiliation wicri:level="1"><nlm:affiliation>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468</wicri:regionArea><wicri:noRegion>New York 10468</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Amino Acid Transport Systems, Neutral (genetics)</term><term>Atrial Fibrillation (complications)</term><term>Atrial Fibrillation (pathology)</term><term>Atrial Fibrillation (physiopathology)</term><term>Brain (pathology)</term><term>Central Nervous System Diseases (complications)</term><term>Central Nervous System Diseases (genetics)</term><term>Central Nervous System Diseases (pathology)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>Chromosomes, Human, X (genetics)</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Muscle Weakness (physiopathology)</term><term>Muscle, Skeletal (pathology)</term><term>Muscle, Skeletal (physiopathology)</term><term>Myocardium (pathology)</term><term>Peripheral Nervous System Diseases (complications)</term><term>Peripheral Nervous System Diseases (genetics)</term><term>Peripheral Nervous System Diseases (pathology)</term><term>Phenotype</term><term>Siblings</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acid Transport Systems, Neutral</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Atrial Fibrillation</term><term>Central Nervous System Diseases</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Central Nervous System Diseases</term><term>Chorea</term><term>Chromosomes, Human, X</term><term>Genetic Variation</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrial Fibrillation</term><term>Brain</term><term>Central Nervous System Diseases</term><term>Chorea</term><term>Muscle, Skeletal</term><term>Myocardium</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Atrial Fibrillation</term><term>Muscle Weakness</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Phenotype</term><term>Siblings</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">McLeod syndrome is an X-linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation in McLeod syndrome.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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