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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<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>
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<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>
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