Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years
Identifieur interne : 001E52 ( Istex/Corpus ); précédent : 001E51; suivant : 001E53Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years
Auteurs : Naheed L. Khan ; Wagner Horta ; Louise Eunson ; Elizabeth Graham ; Janel O. Johnson ; Shannon Chang ; Mary Davis ; Andrew Singleton ; Nicholas W. Wood ; Andrew J. LeesSource :
- Movement Disorders [ 0885-3185 ] ; 2005-04.
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Abstract
We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20335
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affiliationRef="#af1"><personName><givenNames>Louise</givenNames><familyName>Eunson</familyName><degrees>BSc, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1" noteRef="#fn1"><personName><givenNames>Elizabeth</givenNames><familyName>Graham</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Janel O.</givenNames><familyName>Johnson</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Shannon</givenNames><familyName>Chang</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Mary</givenNames><familyName>Davis</familyName><degrees>PhD, MRCPath</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Andrew</givenNames><familyName>Singleton</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Nicholas W.</givenNames><familyName>Wood</familyName><degrees>MD, FRCP, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1 #af4" corresponding="yes"><personName><givenNames>Andrew J.</givenNames><familyName>Lees</familyName><degrees>MD, FRCP</degrees></personName><contactDetails><email>alees@ion.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="BR" type="organization"><unparsedAffiliation>Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara, Brazil</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="GB" type="organization"><unparsedAffiliation>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">manifesting carriers</keyword><keyword xml:id="kwd2">haploinsufficiency</keyword><keyword xml:id="kwd3">isolated population</keyword></keywordGroup><fundingInfo><fundingAgency>Parkinson's Disease Society</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Brain Research Trust</fundingAgency></fundingInfo><supportingInformation><p> This article includes supplementary video clips, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url></p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Deceased.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Parkin Disease in a Brazilian Kindred</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years</title></titleInfo><name type="personal"><namePart type="given">Naheed L.</namePart><namePart type="family">Khan</namePart><namePart type="termsOfAddress">MD, MRCP</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wagner</namePart><namePart type="family">Horta</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Hospital Universitario Walter Cantidio, Neurology Service and Movement Disorders Department, Federal University of Ceara, Fortaleza, Ceara, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Louise</namePart><namePart type="family">Eunson</namePart><namePart type="termsOfAddress">BSc, PhD</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elizabeth</namePart><namePart type="family">Graham</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><description>Deceased.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Janel O.</namePart><namePart type="family">Johnson</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shannon</namePart><namePart type="family">Chang</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary</namePart><namePart type="family">Davis</namePart><namePart type="termsOfAddress">PhD, MRCPath</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew</namePart><namePart type="family">Singleton</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nicholas W.</namePart><namePart type="family">Wood</namePart><namePart type="termsOfAddress">MD, FRCP, PhD</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew J.</namePart><namePart type="family">Lees</namePart><namePart type="termsOfAddress">MD, FRCP</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, United Kingdom</affiliation><affiliation>Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, London, United Kingdom</affiliation><description>Correspondence: Reta Lila Weston Unit of Neurological Studies, Royal Free Hospital and University College Medical School, Windmeyer Bldg., 46 Cleveland St., London W1T 4JF, United Kingdom</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2005-04</dateIssued><dateCaptured encoding="w3cdtf">2004-02-28</dateCaptured><dateValid encoding="w3cdtf">2004-07-17</dateValid><copyrightDate encoding="w3cdtf">2005</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="references">18</extent><extent unit="words">3635</extent></physicalDescription><abstract lang="en">We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society</abstract><note type="funding">Parkinson's Disease Society</note><note type="funding">Brain Research Trust</note><subject lang="en"><genre>Keywords</genre><topic>manifesting carriers</topic><topic>haploinsufficiency</topic><topic>isolated population</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmat</note><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>2005</date><detail type="volume"><caption>vol.</caption><number>20</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>479</start><end>484</end><total>5</total></extent></part></relatedItem><identifier type="istex">078159AAB03402D287C00EDCC3BCA2514985A4FD</identifier><identifier type="DOI">10.1002/mds.20335</identifier><identifier type="ArticleID">MDS20335</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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