Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Identifieur interne : 001488 ( Istex/Corpus ); précédent : 001487; suivant : 001489Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up
Auteurs : Sharon Hassin-Baer ; Nobutaka Hattori ; Oren S. Cohen ; Magdalena Massarwa ; Simon D. Israeli-Korn ; Rivka InzelbergSource :
- Movement Disorders [ 0885-3185 ] ; 2011-03.
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Abstract
Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23456
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ISTEX:9BF83356880C158DC3E1DB333A1BAC90C48B7E79Le document en format XML
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Cohen</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation><affiliation><mods:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</mods:affiliation></affiliation></author><author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation></author><author><name sortKey="Israeli Orn, Simon D" sort="Israeli Orn, Simon D" uniqKey="Israeli Orn S" first="Simon D." last="Israeli-Korn">Simon D. Israeli-Korn</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation><affiliation><mods:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9BF83356880C158DC3E1DB333A1BAC90C48B7E79</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23456</idno><idno type="url">https://api.istex.fr/document/9BF83356880C158DC3E1DB333A1BAC90C48B7E79/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001488</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up</title><author><name sortKey="Hassin Aer, Sharon" sort="Hassin Aer, Sharon" uniqKey="Hassin Aer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation><affiliation><mods:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation><affiliation><mods:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</mods:affiliation></affiliation></author><author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation></author><author><name sortKey="Israeli Orn, Simon D" sort="Israeli Orn, Simon D" uniqKey="Israeli Orn S" first="Simon D." last="Israeli-Korn">Simon D. Israeli-Korn</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><affiliation><mods:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation></affiliation><affiliation><mods:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2011-03">2011-03</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="719">719</biblScope><biblScope unit="page" to="722">722</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9BF83356880C158DC3E1DB333A1BAC90C48B7E79</idno><idno type="DOI">10.1002/mds.23456</idno><idno type="ArticleID">MDS23456</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PARK2</term><term>Parkin</term><term>Parkinson's disease</term><term>follow‐up</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Sharon Hassin‐Baer MD</name><affiliations><json:string>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</json:string><json:string>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</json:string></affiliations></json:item><json:item><name>Nobutaka Hattori MD, PhD</name><affiliations><json:string>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Oren S. Cohen MD</name><affiliations><json:string>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</json:string><json:string>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</json:string></affiliations></json:item><json:item><name>Magdalena Massarwa MD</name><affiliations><json:string>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</json:string></affiliations></json:item><json:item><name>Simon D. Israeli‐Korn MA, MRCP (UK)</name><affiliations><json:string>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</json:string></affiliations></json:item><json:item><name>Rivka Inzelberg MD</name><affiliations><json:string>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</json:string><json:string>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PARK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>follow‐up</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>6.248</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>766</abstractCharCount><pdfWordCount>27035</pdfWordCount><pdfCharCount>175924</pdfCharCount><pdfPageCount>43</pdfPageCount><abstractWordCount>104</abstractWordCount></qualityIndicators><title>Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up</title><genre><json:string>Serial article</json:string></genre><host><volume>26</volume><pages><total>4</total><last>722</last><first>719</first></pages><issn><json:string>0885-3185</json:string></issn><issue>4</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23456</json:string></doi><id>9BF83356880C158DC3E1DB333A1BAC90C48B7E79</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/9BF83356880C158DC3E1DB333A1BAC90C48B7E79/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/9BF83356880C158DC3E1DB333A1BAC90C48B7E79/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/9BF83356880C158DC3E1DB333A1BAC90C48B7E79/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2011</date></publicationStmt><notesStmt><note>Author Roles and Disclosures</note><note type="content">*Relevant conflicts of interest/financial disclosure: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up</title><author><persName><forename type="first">Sharon</forename><surname>Hassin‐Baer</surname><roleName type="degree">MD</roleName></persName><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation></author><author><persName><forename type="first">Nobutaka</forename><surname>Hattori</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Oren S.</forename><surname>Cohen</surname><roleName type="degree">MD</roleName></persName><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation></author><author><persName><forename type="first">Magdalena</forename><surname>Massarwa</surname><roleName type="degree">MD</roleName></persName><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation></author><author><persName><forename type="first">Simon D.</forename><surname>Israeli‐Korn</surname><roleName type="degree">MA, MRCP (UK)</roleName></persName><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation></author><author><persName><forename type="first">Rivka</forename><surname>Inzelberg</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, 52621, Israel</p></note><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-03"></date><biblScope unit="vol">26</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="719">719</biblScope><biblScope unit="page" to="722">722</biblScope></imprint></monogr><idno type="istex">9BF83356880C158DC3E1DB333A1BAC90C48B7E79</idno><idno type="DOI">10.1002/mds.23456</idno><idno type="ArticleID">MDS23456</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkinson's disease</term></item><item><term>genetics</term></item><item><term>Parkin</term></item><item><term>PARK2</term></item><item><term>follow‐up</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-07-11">Received</change><change when="2010-09-03">Registration</change><change when="2011-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/9BF83356880C158DC3E1DB333A1BAC90C48B7E79/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. 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href="file:MDS.MDS23456.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="18"></count><count type="wordTotal" number="3920"></count></countGroup><titleGroup><title type="main" xml:lang="en">Phenotype of the 202 adenine deletion in the <i>parkin</i> gene: 40 years of follow‐up<link href="#fn1"></link></title><title type="short" xml:lang="en">Phenotype of the 202A Deletion in the <fi>parkin</fi> Gene</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Sharon</givenNames><familyName>Hassin‐Baer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Nobutaka</givenNames><familyName>Hattori</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Oren S.</givenNames><familyName>Cohen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Magdalena</givenNames><familyName>Massarwa</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Simon D.</givenNames><familyName>Israeli‐Korn</familyName><degrees>MA, MRCP (UK)</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Rivka</givenNames><familyName>Inzelberg</familyName><degrees>MD</degrees></personName><contactDetails><email>inzelber@post.tau.ac.il</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IL" type="organization"><unparsedAffiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IL" type="organization"><unparsedAffiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Parkinson's disease</keyword><keyword xml:id="kwd2">genetics</keyword><keyword xml:id="kwd3">Parkin</keyword><keyword xml:id="kwd4">PARK2</keyword><keyword xml:id="kwd5">follow‐up</keyword></keywordGroup><supportingInformation><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23456:MDS_23456_sm_authorroles"></mediaResource><caption>Author Roles and Disclosures</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>We describe the four decades follow‐up of 14 <i>parkin</i> patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds.</p></section><section xml:id="abs1-2"><title type="main">Results:</title><p>All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the <i>parkin</i> gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition.</p></section><section xml:id="abs1-3"><title type="main">Conclusions:</title><p>The 202A deletion of the <i>parkin</i> gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><b>Relevant conflicts of interest/financial disclosure:</b> Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow‐up</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Phenotype of the 202A Deletion in the parkin Gene</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotype of the 202 adenine deletion in the</title></titleInfo><name type="personal"><namePart type="given">Sharon</namePart><namePart type="family">Hassin‐Baer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nobutaka</namePart><namePart type="family">Hattori</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Juntendo University Medical School, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Oren S.</namePart><namePart type="family">Cohen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Magdalena</namePart><namePart type="family">Massarwa</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Simon D.</namePart><namePart type="family">Israeli‐Korn</namePart><namePart type="termsOfAddress">MA, MRCP (UK)</namePart><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rivka</namePart><namePart type="family">Inzelberg</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel</affiliation><affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel</affiliation><description>Correspondence: The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, 52621, Israel</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">shortCommunication</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-03</dateIssued><dateCaptured encoding="w3cdtf">2010-07-11</dateCaptured><dateValid encoding="w3cdtf">2010-09-03</dateValid><copyrightDate encoding="w3cdtf">2011</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="tables">2</extent><extent unit="references">18</extent><extent unit="words">3920</extent></physicalDescription><abstract lang="en">Background:: We describe the four decades follow‐up of 14 parkin patients belonging to two large eight‐generation‐long in‐bred Muslim‐Arab kindreds. Results:: All patients had a single base‐pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17–68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition. Conclusions:: The 202A deletion of the parkin gene causes early‐onset Parkinson's disease with marked levodopa/STN‐DBS–resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident. © 2010 Movement Disorder Society</abstract><note type="additional physical form">Author Roles and Disclosures</note><note type="content">*Relevant conflicts of interest/financial disclosure: Nothing to report. Full financial disclosures and author roles can be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>Parkinson's disease</topic><topic>genetics</topic><topic>Parkin</topic><topic>PARK2</topic><topic>follow‐up</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>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>719</start><end>722</end><total>4</total></extent></part></relatedItem><identifier type="istex">9BF83356880C158DC3E1DB333A1BAC90C48B7E79</identifier><identifier type="DOI">10.1002/mds.23456</identifier><identifier type="ArticleID">MDS23456</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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