Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
Identifieur interne : 002D49 ( Istex/Corpus ); précédent : 002D48; suivant : 002D50Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
Auteurs : Anna Modoni ; Maria Fiorella Contarino ; Anna Rita Bentivoglio ; Elisabetta Tabolacci ; Massimo Santoro ; Maria Lucia Calcagni ; Pietro A. Tonali ; Giovanni Neri ; Gabriella SilvestriSource :
- Movement Disorders [ 0885-3185 ] ; 2007-02-15.
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Abstract
We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of L‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial L‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21228
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ISTEX:CB3C9D6C025E78A5392FBAF573670A4F2AE21223Le document en format XML
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Tonali</name><affiliation><mods:affiliation>Department of Neuroscience, Catholic University, Rome, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Fondazione Don C. Gnocchi, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><affiliation><mods:affiliation>Institute of Human Genetics, Catholic University, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Silvestri, Gabriella" sort="Silvestri, Gabriella" uniqKey="Silvestri G" first="Gabriella" last="Silvestri">Gabriella Silvestri</name><affiliation><mods:affiliation>Department of Neuroscience, Catholic University, Rome, 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. 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Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of L‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial L‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Anna Modoni MD</name><affiliations><json:string>Department of Neuroscience, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Maria Fiorella Contarino MD</name><affiliations><json:string>Department of Neuroscience, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Anna Rita Bentivoglio MD</name><affiliations><json:string>Department of Neuroscience, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Elisabetta Tabolacci MD</name><affiliations><json:string>Institute of Human Genetics, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Massimo Santoro PhD</name><affiliations><json:string>Department of Neuroscience, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Maria Lucia Calcagni MD</name><affiliations><json:string>Department of Nuclear Medicine, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Pietro A. 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Gnocchi, Rome, Italy</json:string></affiliations></json:item><json:item><name>Giovanni Neri MD</name><affiliations><json:string>Institute of Human Genetics, Catholic University, Rome, Italy</json:string></affiliations></json:item><json:item><name>Gabriella Silvestri MD, PhD</name><affiliations><json:string>Department of Neuroscience, Catholic University, Rome, Italy</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>SCA2</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>CAG repeats</value></json:item></subject><language><json:string>eng</json:string></language><abstract>We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of L‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial L‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. 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Gnocchi, Rome, Italy</affiliation></author><author><persName><forename type="first">Giovanni</forename><surname>Neri</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Human Genetics, Catholic University, Rome, Italy</affiliation></author><author><persName><forename type="first">Gabriella</forename><surname>Silvestri</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Institute of Neurology, Department of Neuroscience, Università Cattolica, L.go F. Vito, 1 00168 Rome, Italy</p></note><affiliation>Department of Neuroscience, Catholic University, Rome, 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. 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Gnocchi, Rome, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">SCA2</keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">CAG repeats</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of <sc>L</sc>‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial <sc>L</sc>‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>SCA2‐Related Parkinsonism in Italy</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients</title></titleInfo><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">Modoni</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Fiorella</namePart><namePart type="family">Contarino</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna Rita</namePart><namePart type="family">Bentivoglio</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elisabetta</namePart><namePart type="family">Tabolacci</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Massimo</namePart><namePart type="family">Santoro</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Lucia</namePart><namePart type="family">Calcagni</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Nuclear Medicine, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pietro A.</namePart><namePart type="family">Tonali</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroscience, Catholic University, Rome, Italy</affiliation><affiliation>Fondazione Don C. Gnocchi, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Neri</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, Catholic University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gabriella</namePart><namePart type="family">Silvestri</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neuroscience, Catholic University, Rome, Italy</affiliation><description>Correspondence: Institute of Neurology, Department of Neuroscience, Università Cattolica, L.go F. Vito, 1 00168 Rome, Italy</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">2007-02-15</dateIssued><dateCaptured encoding="w3cdtf">2006-05-19</dateCaptured><dateValid encoding="w3cdtf">2006-08-03</dateValid><copyrightDate encoding="w3cdtf">2007</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="references">11</extent><extent unit="words">2132</extent></physicalDescription><abstract lang="en">We evaluated the prevalence of the SCA2 mutation among 224 Italian patients affected by typical Parkinsonism, including 145 sporadic and 79 familial forms. Pink1, Parkin, and LRRK2 gene mutations had been excluded previously. Molecular testing for the CAG expansion at the SCA 2 locus was performed on leukocyte DNA. Cloning and sequencing of the expanded allele was performed in patients positive for the SCA2 expansion. A 38 CAG expansion was detected in 1 of 79 families studied. The proband, a male age 67, and his sister, age 69, were both affected by a benign form of L‐dopa–responsive Parkinsonism not associated with cerebellar signs. The inheritance was autosomal dominant. The CAG expansion was stable through meiotic transmission: sequence analysis showed that the CAG stretch was interrupted by 3 CAA. Our study shows that CAG expansion at the SCA 2 locus may represent a genetic cause of familial L‐dopa–responsive Parkinsonism among Italian patients. The stability of the pathological CAG expansion detected in this family was related to the presence of CAA interruptions. These findings, together with literature data, suggest that the molecular intrinsic structure of the expanded allele may modulate the phenotypic expression of the SCA2 mutation. © 2006 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>SCA2</topic><topic>Parkinson's disease</topic><topic>CAG repeats</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>Research 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>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>324</start><end>327</end><total>4</total></extent></part></relatedItem><identifier type="istex">CB3C9D6C025E78A5392FBAF573670A4F2AE21223</identifier><identifier type="DOI">10.1002/mds.21228</identifier><identifier type="ArticleID">MDS21228</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 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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