Families with Wilson's disease in subsequent generations: clinical and genetic analysis.
Identifieur interne : 000597 ( PubMed/Checkpoint ); précédent : 000596; suivant : 000598Families with Wilson's disease in subsequent generations: clinical and genetic analysis.
Auteurs : Karolina Dzie Yc [Pologne] ; Tomasz Litwin ; Grzegorz Chabik ; Karolina Gramza ; Anna CzłonkowskaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , pharmacology : Ceruloplasmin, Copper.
- geographic : Great Britain.
- epidemiology : Hepatolenticular Degeneration.
- genetics : Hepatolenticular Degeneration.
- Family, Female, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Prevalence.
Abstract
Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients.
DOI: 10.1002/mds.26057
PubMed: 25327413
Affiliations:
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pubmed:25327413Le document en format XML
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<author><name sortKey="Dzie Yc, Karolina" sort="Dzie Yc, Karolina" uniqKey="Dzie Yc K" first="Karolina" last="Dzie Yc">Karolina Dzie Yc</name>
<affiliation wicri:level="1"><nlm:affiliation>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
</affiliation>
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<author><name sortKey="Litwin, Tomasz" sort="Litwin, Tomasz" uniqKey="Litwin T" first="Tomasz" last="Litwin">Tomasz Litwin</name>
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<author><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name>
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<author><name sortKey="Gramza, Karolina" sort="Gramza, Karolina" uniqKey="Gramza K" first="Karolina" last="Gramza">Karolina Gramza</name>
</author>
<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Families with Wilson's disease in subsequent generations: clinical and genetic analysis.</title>
<author><name sortKey="Dzie Yc, Karolina" sort="Dzie Yc, Karolina" uniqKey="Dzie Yc K" first="Karolina" last="Dzie Yc">Karolina Dzie Yc</name>
<affiliation wicri:level="1"><nlm:affiliation>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</nlm:affiliation>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea>
<wicri:noRegion>Warsaw</wicri:noRegion>
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<author><name sortKey="Litwin, Tomasz" sort="Litwin, Tomasz" uniqKey="Litwin T" first="Tomasz" last="Litwin">Tomasz Litwin</name>
</author>
<author><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name>
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<author><name sortKey="Gramza, Karolina" sort="Gramza, Karolina" uniqKey="Gramza K" first="Karolina" last="Gramza">Karolina Gramza</name>
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<author><name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ceruloplasmin (pharmacology)</term>
<term>Copper (pharmacology)</term>
<term>Family</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Great Britain</term>
<term>Hepatolenticular Degeneration (epidemiology)</term>
<term>Hepatolenticular Degeneration (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Prevalence</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="pharmacology" xml:lang="en"><term>Ceruloplasmin</term>
<term>Copper</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Great Britain</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hepatolenticular Degeneration</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Family</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Male</term>
<term>Prevalence</term>
</keywords>
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</teiHeader>
<front><div type="abstract" xml:lang="en">Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients.</div>
</front>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">25327413</PMID>
<DateCreated><Year>2014</Year>
<Month>12</Month>
<Day>09</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>09</Month>
<Day>21</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>14</Issue>
<PubDate><Year>2014</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Families with Wilson's disease in subsequent generations: clinical and genetic analysis.</ArticleTitle>
<Pagination><MedlinePgn>1828-32</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26057</ELocationID>
<Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients.</AbstractText>
<AbstractText Label="MATERIALS AND METHODS" NlmCategory="METHODS">In February 2014, our registry included 760 cases of diagnosed Wilson's disease. We selected families in which Wilson's disease was diagnosed in the proband's offspring.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Between 1957 and 2014, 1,050 relatives of affected members were screened. Wilson's disease in subsequent generations was observed in nine non-consanguineous families, with 12 affected offspring from nine probands.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">We detected a higher (4.08%) than expected (0.5%) frequency of Wilson's disease among proband offspring, which is in accordance with a recent genetic study in the United Kingdom that suggested a higher WD prevalence in the European population.</AbstractText>
<CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dzieżyc</LastName>
<ForeName>Karolina</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Litwin</LastName>
<ForeName>Tomasz</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Chabik</LastName>
<ForeName>Grzegorz</ForeName>
<Initials>G</Initials>
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<Author ValidYN="Y"><LastName>Gramza</LastName>
<ForeName>Karolina</ForeName>
<Initials>K</Initials>
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<Author ValidYN="Y"><LastName>Członkowska</LastName>
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<Language>eng</Language>
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<ArticleDate DateType="Electronic"><Year>2014</Year>
<Month>10</Month>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>789U1901C5</RegistryNumber>
<NameOfSubstance UI="D003300">Copper</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 1.16.3.1</RegistryNumber>
<NameOfSubstance UI="D002570">Ceruloplasmin</NameOfSubstance>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002570">Ceruloplasmin</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003300">Copper</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000494">pharmacology</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005190">Family</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D006113">Great Britain</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006527">Hepatolenticular Degeneration</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015995">Prevalence</DescriptorName>
</MeshHeading>
</MeshHeadingList>
<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Wilson's disease</Keyword>
<Keyword MajorTopicYN="N">consecutive generations</Keyword>
<Keyword MajorTopicYN="N">family screening</Keyword>
</KeywordList>
</MedlineCitation>
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<affiliations><list><country><li>Pologne</li>
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<tree><noCountry><name sortKey="Chabik, Grzegorz" sort="Chabik, Grzegorz" uniqKey="Chabik G" first="Grzegorz" last="Chabik">Grzegorz Chabik</name>
<name sortKey="Czlonkowska, Anna" sort="Czlonkowska, Anna" uniqKey="Czlonkowska A" first="Anna" last="Członkowska">Anna Członkowska</name>
<name sortKey="Gramza, Karolina" sort="Gramza, Karolina" uniqKey="Gramza K" first="Karolina" last="Gramza">Karolina Gramza</name>
<name sortKey="Litwin, Tomasz" sort="Litwin, Tomasz" uniqKey="Litwin T" first="Tomasz" last="Litwin">Tomasz Litwin</name>
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<country name="Pologne"><noRegion><name sortKey="Dzie Yc, Karolina" sort="Dzie Yc, Karolina" uniqKey="Dzie Yc K" first="Karolina" last="Dzie Yc">Karolina Dzie Yc</name>
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