Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families
Identifieur interne : 001522 ( Istex/Corpus ); précédent : 001521; suivant : 001523Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families
Auteurs : Anna R. Bentivoglio ; Pietro Cortelli ; Enza M. Valente ; Tàmara Ialongo ; Alessandro Ferraris ; Antonio Elia ; Pasquale Montagna ; Alberto AlbaneseSource :
- Movement Disorders [ 0885-3185 ] ; 2001-11.
English descriptors
- KwdEn :
Abstract
The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.
Url:
DOI: 10.1002/mds.10034
Links to Exploration step
ISTEX:D7A35351430BF689B5D0BDC11BD1CF092EB7B134Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title><author><name sortKey="Bentivoglio, Anna R" sort="Bentivoglio, Anna R" uniqKey="Bentivoglio A" first="Anna R." last="Bentivoglio">Anna R. Bentivoglio</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name><affiliation><mods:affiliation>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena, Modena, Italy</mods:affiliation></affiliation></author><author><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Istituto CSS Mendel, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tàmara" last="Ialongo">Tàmara Ialongo</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Istituto CSS Mendel, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Elia, Antonio" sort="Elia, Antonio" uniqKey="Elia A" first="Antonio" last="Elia">Antonio Elia</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><affiliation><mods:affiliation>Clinica Neurologica, Università di Bologna, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:D7A35351430BF689B5D0BDC11BD1CF092EB7B134</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1002/mds.10034</idno><idno type="url">https://api.istex.fr/document/D7A35351430BF689B5D0BDC11BD1CF092EB7B134/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001522</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title><author><name sortKey="Bentivoglio, Anna R" sort="Bentivoglio, Anna R" uniqKey="Bentivoglio A" first="Anna R." last="Bentivoglio">Anna R. Bentivoglio</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name><affiliation><mods:affiliation>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena, Modena, Italy</mods:affiliation></affiliation></author><author><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Istituto CSS Mendel, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tàmara" last="Ialongo">Tàmara Ialongo</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Istituto CSS Mendel, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Elia, Antonio" sort="Elia, Antonio" uniqKey="Elia A" first="Antonio" last="Elia">Antonio Elia</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><affiliation><mods:affiliation>Clinica Neurologica, Università di Bologna, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><affiliation><mods:affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-11">2001-11</date><biblScope unit="vol">16</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="999">999</biblScope><biblScope unit="page" to="1006">1006</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D7A35351430BF689B5D0BDC11BD1CF092EB7B134</idno><idno type="DOI">10.1002/mds.10034</idno><idno type="ArticleID">MDS10034</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PARK6</term><term>Parkinson's disease</term><term>autosomal recessive parkinsonism</term><term>early onset</term><term>family study</term><term>genetics</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Anna R. Bentivoglio MD, PhD</name><affiliations><json:string>Istituto di Neurologia, Università Cattolica, Roma, Italy</json:string></affiliations></json:item><json:item><name>Pietro Cortelli MD</name><affiliations><json:string>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena, Modena, Italy</json:string></affiliations></json:item><json:item><name>Enza M. Valente</name><affiliations><json:string>Istituto di Neurologia, Università Cattolica, Roma, Italy</json:string><json:string>Istituto CSS Mendel, Roma, Italy</json:string></affiliations></json:item><json:item><name>Tàmara Ialongo MD</name><affiliations><json:string>Istituto di Neurologia, Università Cattolica, Roma, Italy</json:string></affiliations></json:item><json:item><name>Alessandro Ferraris MD</name><affiliations><json:string>Istituto di Neurologia, Università Cattolica, Roma, Italy</json:string><json:string>Istituto CSS Mendel, Roma, Italy</json:string></affiliations></json:item><json:item><name>Antonio Elia MD</name><affiliations><json:string>Istituto di Neurologia, Università Cattolica, Roma, Italy</json:string></affiliations></json:item><json:item><name>Pasquale Montagna MD</name><affiliations><json:string>Clinica Neurologica, Università di Bologna, Bologna, Italy</json:string></affiliations></json:item><json:item><name>Alberto Albanese MD</name><affiliations><json:string>Istituto di Neurologia, Università Cattolica, Roma, Italy</json:string><json:string>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>autosomal recessive parkinsonism</value></json:item><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>early onset</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>family study</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>PARK6</value></json:item></subject><language><json:string>eng</json:string></language><abstract>The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.</abstract><qualityIndicators><score>6.262</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1143</abstractCharCount><pdfWordCount>4222</pdfWordCount><pdfCharCount>27109</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>170</abstractWordCount></qualityIndicators><title>Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title><genre><json:string>Serial article</json:string></genre><host><volume>16</volume><pages><total>8</total><last>1006</last><first>999</first></pages><issn><json:string>0885-3185</json:string></issn><issue>6</issue><subject><json:item><value>Article</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>2001</publicationDate><copyrightDate>2001</copyrightDate><doi><json:string>10.1002/mds.10034</json:string></doi><id>D7A35351430BF689B5D0BDC11BD1CF092EB7B134</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/D7A35351430BF689B5D0BDC11BD1CF092EB7B134/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/D7A35351430BF689B5D0BDC11BD1CF092EB7B134/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/D7A35351430BF689B5D0BDC11BD1CF092EB7B134/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><availability><p>John Wiley & Sons, Inc.</p></availability><date>2001</date></publicationStmt><notesStmt><note type="content">*A videotape accompanies this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title><author><persName><forename type="first">Anna R.</forename><surname>Bentivoglio</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Istituto di Neurologia, Università Cattolica, Largo Agostino Gemelli, 8‐00168, Roma, Italy</p></note><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation></author><author><persName><forename type="first">Pietro</forename><surname>Cortelli</surname><roleName type="degree">MD</roleName></persName><affiliation>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena, Modena, Italy</affiliation></author><author><persName><forename type="first">Enza M.</forename><surname>Valente</surname></persName><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><affiliation>Istituto CSS Mendel, Roma, Italy</affiliation></author><author><persName><forename type="first">Tàmara</forename><surname>Ialongo</surname><roleName type="degree">MD</roleName></persName><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation></author><author><persName><forename type="first">Alessandro</forename><surname>Ferraris</surname><roleName type="degree">MD</roleName></persName><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><affiliation>Istituto CSS Mendel, Roma, Italy</affiliation></author><author><persName><forename type="first">Antonio</forename><surname>Elia</surname><roleName type="degree">MD</roleName></persName><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation></author><author><persName><forename type="first">Pasquale</forename><surname>Montagna</surname><roleName type="degree">MD</roleName></persName><affiliation>Clinica Neurologica, Università di Bologna, Bologna, Italy</affiliation></author><author><persName><forename type="first">Alberto</forename><surname>Albanese</surname><roleName type="degree">MD</roleName></persName><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><affiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="2001-11"></date><biblScope unit="vol">16</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="999">999</biblScope><biblScope unit="page" to="1006">1006</biblScope></imprint></monogr><idno type="istex">D7A35351430BF689B5D0BDC11BD1CF092EB7B134</idno><idno type="DOI">10.1002/mds.10034</idno><idno type="ArticleID">MDS10034</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2001</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>autosomal recessive parkinsonism</term></item><item><term>Parkinson's disease</term></item><item><term>early onset</term></item><item><term>family study</term></item><item><term>genetics</term></item><item><term>PARK6</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2001-07-05">Received</change><change when="2001-08-24">Registration</change><change when="2001-11">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/D7A35351430BF689B5D0BDC11BD1CF092EB7B134/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>John Wiley & Sons, Inc.</publisherName><publisherLoc>New York</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="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi origin="wiley" registered="yes">10.1002/mds.v16:6</doi><numberingGroup><numbering type="journalVolume" number="16">16</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2001-11">November 2001</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="10" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.10034</doi><idGroup><id type="unit" value="MDS10034"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2001 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2001-07-05"></event><event type="manuscriptRevised" date="2001-08-07"></event><event type="manuscriptAccepted" date="2001-08-24"></event><event type="publishedOnlineEarlyUnpaginated" date="2001-11-07"></event><event type="firstOnline" date="2001-11-07"></event><event type="publishedOnlineFinalForm" date="2001-11-29"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-09"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">999</numbering><numbering type="pageLast">1006</numbering></numberingGroup><correspondenceTo>Istituto di Neurologia, Università Cattolica, Largo Agostino Gemelli, 8‐00168, Roma, Italy</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS10034.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="24"></count><count type="wordTotal" number="4079"></count></countGroup><titleGroup><title type="main" xml:lang="en">Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families<link href="#fn1"></link></title><title type="short" xml:lang="en">PARK6 Phenotype</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Anna R.</givenNames><familyName>Bentivoglio</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>aerreb@mclink.it</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Pietro</givenNames><familyName>Cortelli</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Enza M.</givenNames><familyName>Valente</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Tàmara</givenNames><familyName>Ialongo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Alessandro</givenNames><familyName>Ferraris</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Antonio</givenNames><familyName>Elia</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Pasquale</givenNames><familyName>Montagna</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1 #af5"><personName><givenNames>Alberto</givenNames><familyName>Albanese</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IT" type="organization"><unparsedAffiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena, Modena, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="IT" type="organization"><unparsedAffiliation>Istituto CSS Mendel, Roma, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="IT" type="organization"><unparsedAffiliation>Clinica Neurologica, Università di Bologna, Bologna, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="IT" type="organization"><unparsedAffiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">autosomal recessive parkinsonism</keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">early onset</keyword><keyword xml:id="kwd4">family study</keyword><keyword xml:id="kwd5">genetics</keyword><keyword xml:id="kwd6">PARK6</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>A videotape accompanies this article.</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>Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PARK6 Phenotype</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families</title></titleInfo><name type="personal"><namePart type="given">Anna R.</namePart><namePart type="family">Bentivoglio</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><description>Correspondence: Istituto di Neurologia, Università Cattolica, Largo Agostino Gemelli, 8‐00168, Roma, Italy</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pietro</namePart><namePart type="family">Cortelli</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Dipartimento di Patologia Neuropsicosensoriale, Università di Modena, Modena, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Enza M.</namePart><namePart type="family">Valente</namePart><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><affiliation>Istituto CSS Mendel, Roma, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tàmara</namePart><namePart type="family">Ialongo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alessandro</namePart><namePart type="family">Ferraris</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><affiliation>Istituto CSS Mendel, Roma, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonio</namePart><namePart type="family">Elia</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pasquale</namePart><namePart type="family">Montagna</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Clinica Neurologica, Università di Bologna, Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alberto</namePart><namePart type="family">Albanese</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Istituto di Neurologia, Università Cattolica, Roma, Italy</affiliation><affiliation>Istituto Nazionale Neurologico Carlo Besta, Milano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>John Wiley & Sons, Inc.</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2001-11</dateIssued><dateCaptured encoding="w3cdtf">2001-07-05</dateCaptured><dateValid encoding="w3cdtf">2001-08-24</dateValid><copyrightDate encoding="w3cdtf">2001</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">3</extent><extent unit="tables">2</extent><extent unit="references">24</extent><extent unit="words">4079</extent></physicalDescription><abstract lang="en">The clinical features of nine patients (three women and six men) affected by PARK6‐linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 ± 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 ± 8.5 years, and average disease duration was 21 ± 7.8 years. Parkinsonian features included benign course, early onset of drug‐induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family‐related differences were found. PARK6 disease is a new form of early‐onset parkinsonism without other atypical clinical features. © 2001 Movement Disorder Society.</abstract><note type="content">*A videotape accompanies this article.</note><subject lang="en"><genre>Keywords</genre><topic>autosomal recessive parkinsonism</topic><topic>Parkinson's disease</topic><topic>early onset</topic><topic>family study</topic><topic>genetics</topic><topic>PARK6</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Article</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>2001</date><detail type="volume"><caption>vol.</caption><number>16</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>999</start><end>1006</end><total>8</total></extent></part></relatedItem><identifier type="istex">D7A35351430BF689B5D0BDC11BD1CF092EB7B134</identifier><identifier type="DOI">10.1002/mds.10034</identifier><identifier type="ArticleID">MDS10034</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>John Wiley & Sons, Inc.</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001522 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001522 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:D7A35351430BF689B5D0BDC11BD1CF092EB7B134
|texte= Phenotypic characterisation of autosomal recessive PARK6‐linked parkinsonism in three unrelated Italian families
}}
| This area was generated with Dilib version V0.6.23. |  |