Movement Disorders (revue)

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Late onset Wilson's disease: Therapeutic implications

Identifieur interne : 003584 ( Istex/Corpus ); précédent : 003583; suivant : 003585

Late onset Wilson's disease: Therapeutic implications

Auteurs : Anna Członkowska ; Maria Rodo ; Gra Yna Gromadzka

Source :

RBID : ISTEX:5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6

English descriptors

Abstract

The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84‐year‐old woman with WD. Despite the absence of treatment, the only symptom she presented with, until the age of 74 years, was Kayser‐Fleisher rings. At the age of 74, she developed slightly abnormal liver function. This case raises the following issues: (a) Should WD be considered in all patients of all ages who manifest signs related to the disease? (b) Are ATP7B mutations fully penetrant? (c) Should all patients diagnosed presymptomatically receive anticopper therapy? © 2008 Movement Disorder Society

Url:
DOI: 10.1002/mds.21985

Links to Exploration step

ISTEX:5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6

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<abstract lang="en">The clinical symptoms of Wilson's disease (WD) usually develop between 3 and 40 years of age and include signs of liver and/or neurologic and psychiatric disease. We report on an 84‐year‐old woman with WD. Despite the absence of treatment, the only symptom she presented with, until the age of 74 years, was Kayser‐Fleisher rings. At the age of 74, she developed slightly abnormal liver function. This case raises the following issues: (a) Should WD be considered in all patients of all ages who manifest signs related to the disease? (b) Are ATP7B mutations fully penetrant? (c) Should all patients diagnosed presymptomatically receive anticopper therapy? © 2008 Movement Disorder Society</abstract>
<subject lang="en">
<genre>Keywords</genre>
<topic>Wilson's disease</topic>
<topic>late onset</topic>
<topic>genotype</topic>
<topic>phenotype</topic>
<topic>treatment</topic>
</subject>
<relatedItem type="host">
<titleInfo>
<title>Movement Disorders</title>
</titleInfo>
<titleInfo type="abbreviated">
<title>Mov. Disord.</title>
</titleInfo>
<subject>
<genre>article category</genre>
<topic>Brief Report</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part>
<date>2008</date>
<detail type="volume">
<caption>vol.</caption>
<number>23</number>
</detail>
<detail type="issue">
<caption>no.</caption>
<number>6</number>
</detail>
<extent unit="pages">
<start>896</start>
<end>898</end>
<total>3</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">5D10FB7B2FAB7B108F3BF3066A444F15A1A7EBC6</identifier>
<identifier type="DOI">10.1002/mds.21985</identifier>
<identifier type="ArticleID">MDS21985</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Movement Disorder Society</accessCondition>
<recordInfo>
<recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin>
<recordContentSource>WILEY</recordContentSource>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>

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