Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome
Identifieur interne : 001C34 ( Main/Corpus ); précédent : 001C33; suivant : 001C35Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome
Auteurs : B. Borroni ; S. Goldwurm ; C. Cerini ; M. Cosseddu ; N. Meucci ; C. Mariani ; G. Pezzoli ; A. PadovaniSource :
- European Journal of Neurology [ 1351-5101 ] ; 2011-01.
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- KwdEn :
Abstract
Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.
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DOI: 10.1111/j.1468-1331.2010.03081.x
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Cerini</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author><author><name sortKey="Cosseddu, M" sort="Cosseddu, M" uniqKey="Cosseddu M" first="M." last="Cosseddu">M. Cosseddu</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author><author><name sortKey="Meucci, N" sort="Meucci, N" uniqKey="Meucci N" first="N." last="Meucci">N. Meucci</name><affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</mods:affiliation></affiliation></author><author><name sortKey="Mariani, C" sort="Mariani, C" uniqKey="Mariani C" first="C." last="Mariani">C. Mariani</name><affiliation><mods:affiliation>Neurology Unit, Ospedale Sacco, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pezzoli, G" sort="Pezzoli, G" uniqKey="Pezzoli G" first="G." last="Pezzoli">G. Pezzoli</name><affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</mods:affiliation></affiliation></author><author><name sortKey="Padovani, A" sort="Padovani, A" uniqKey="Padovani A" first="A." last="Padovani">A. Padovani</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:ECEBB49095C3E370F1CB7427A538F6F394482C23</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1111/j.1468-1331.2010.03081.x</idno><idno type="url">https://api.istex.fr/document/ECEBB49095C3E370F1CB7427A538F6F394482C23/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001C34</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome</title><author><name sortKey="Borroni, B" sort="Borroni, B" uniqKey="Borroni B" first="B." last="Borroni">B. Borroni</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author><author><name sortKey="Goldwurm, S" sort="Goldwurm, S" uniqKey="Goldwurm S" first="S." last="Goldwurm">S. Goldwurm</name><affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</mods:affiliation></affiliation></author><author><name sortKey="Cerini, C" sort="Cerini, C" uniqKey="Cerini C" first="C." last="Cerini">C. Cerini</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author><author><name sortKey="Cosseddu, M" sort="Cosseddu, M" uniqKey="Cosseddu M" first="M." last="Cosseddu">M. Cosseddu</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author><author><name sortKey="Meucci, N" sort="Meucci, N" uniqKey="Meucci N" first="N." last="Meucci">N. Meucci</name><affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</mods:affiliation></affiliation></author><author><name sortKey="Mariani, C" sort="Mariani, C" uniqKey="Mariani C" first="C." last="Mariani">C. Mariani</name><affiliation><mods:affiliation>Neurology Unit, Ospedale Sacco, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pezzoli, G" sort="Pezzoli, G" uniqKey="Pezzoli G" first="G." last="Pezzoli">G. Pezzoli</name><affiliation><mods:affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</mods:affiliation></affiliation></author><author><name sortKey="Padovani, A" sort="Padovani, A" uniqKey="Padovani A" first="A." last="Padovani">A. Padovani</name><affiliation><mods:affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-01">2011-01</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="195">195</biblScope><biblScope unit="page" to="197">197</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">ECEBB49095C3E370F1CB7427A538F6F394482C23</idno><idno type="DOI">10.1111/j.1468-1331.2010.03081.x</idno><idno type="ArticleID">ENE3081</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>cognitive disorders and dementia</term><term>frontotemporal dementia</term><term>movement disorders</term><term>neurodegenerative</term><term>neurological disorders</term><term>progressive supranuclear palsy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>B. Borroni</name><affiliations><json:string>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</json:string></affiliations></json:item><json:item><name>S. Goldwurm</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</json:string></affiliations></json:item><json:item><name>C. Cerini</name><affiliations><json:string>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</json:string></affiliations></json:item><json:item><name>M. Cosseddu</name><affiliations><json:string>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</json:string></affiliations></json:item><json:item><name>N. Meucci</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</json:string></affiliations></json:item><json:item><name>C. Mariani</name><affiliations><json:string>Neurology Unit, Ospedale Sacco, Milan, Italy</json:string></affiliations></json:item><json:item><name>G. Pezzoli</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</json:string></affiliations></json:item><json:item><name>A. Padovani</name><affiliations><json:string>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>cognitive disorders and dementia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>frontotemporal dementia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>movement disorders</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neurodegenerative</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neurological disorders</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>progressive supranuclear palsy</value></json:item></subject><articleId><json:string>ENE3081</json:string></articleId><language><json:string>eng</json:string></language><abstract>Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.</abstract><qualityIndicators><score>4.684</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>1683</abstractCharCount><pdfWordCount>1684</pdfWordCount><pdfCharCount>10781</pdfCharCount><pdfPageCount>3</pdfPageCount><abstractWordCount>254</abstractWordCount></qualityIndicators><title>Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome</title><genre><json:string>brief 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Syndrome</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome</title><author><persName><forename type="first">B.</forename><surname>Borroni</surname></persName><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation></author><author><persName><forename type="first">S.</forename><surname>Goldwurm</surname></persName><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</affiliation></author><author><persName><forename type="first">C.</forename><surname>Cerini</surname></persName><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation></author><author><persName><forename type="first">M.</forename><surname>Cosseddu</surname></persName><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation></author><author><persName><forename type="first">N.</forename><surname>Meucci</surname></persName><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</affiliation></author><author><persName><forename type="first">C.</forename><surname>Mariani</surname></persName><affiliation>Neurology Unit, Ospedale Sacco, Milan, Italy</affiliation></author><author><persName><forename type="first">G.</forename><surname>Pezzoli</surname></persName><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</affiliation></author><author><persName><forename type="first">A.</forename><surname>Padovani</surname></persName><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation></author></analytic><monogr><title level="j">European Journal of Neurology</title><idno type="pISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><idno type="DOI">10.1111/(ISSN)1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2011-01"></date><biblScope unit="volume">18</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="195">195</biblScope><biblScope unit="page" to="197">197</biblScope></imprint></monogr><idno type="istex">ECEBB49095C3E370F1CB7427A538F6F394482C23</idno><idno type="DOI">10.1111/j.1468-1331.2010.03081.x</idno><idno type="ArticleID">ENE3081</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>cognitive disorders and dementia</term></item><item><term>frontotemporal dementia</term></item><item><term>movement disorders</term></item><item><term>neurodegenerative</term></item><item><term>neurological disorders</term></item><item><term>progressive supranuclear palsy</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2011-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/ECEBB49095C3E370F1CB7427A538F6F394482C23/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>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1468-1331</doi><issn type="print">1351-5101</issn><issn type="electronic">1468-1331</issn><idGroup><id type="product" value="ENE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="EUROPEAN JOURNAL OF NEUROLOGY">European Journal of Neurology</title></titleGroup></publicationMeta><publicationMeta level="part" position="01101"><doi origin="wiley">10.1111/ene.2010.18.issue-1</doi><numberingGroup><numbering type="journalVolume" number="18">18</numbering><numbering type="journalIssue" number="1">1</numbering></numberingGroup><coverDate startDate="2011-01">January 2011</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="27" status="forIssue"><doi origin="wiley">10.1111/j.1468-1331.2010.03081.x</doi><idGroup><id type="unit" value="ENE3081"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="tocHeading1">Short Communications</title></titleGroup><copyright>© 2010 The Author(s). European Journal of Neurology © 2010 EFNS</copyright><eventGroup><event type="firstOnline" date="2010-12-15"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-05-11"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.4 mode:FullText" date="2010-12-14"></event><event type="publishedOnlineFinalForm" date="2010-12-15"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-24"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="195">195</numbering><numbering type="pageLast" number="197">197</numbering></numberingGroup><correspondenceTo>B. Borroni, Clinica Neurologica, Università degli Studi di Brescia, Pza Spedali Civili, 1‐25100 Brescia, Italy (tel.: +39 0303995632; fax: +39 0303995027; e‐mail: <email>bborroni@inwind.it</email>).</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ENE.ENE3081.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 28 November 2009 Accepted 26 March 2010</unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="1"></count></countGroup><titleGroup><title type="main">Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome</title><title type="shortAuthors">B. Borroni <i>et al.</i></title><title type="short">Familial aggregation in PSP and CBS</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>B.</givenNames><familyName>Borroni</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2"><personName><givenNames>S.</givenNames><familyName>Goldwurm</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>C.</givenNames><familyName>Cerini</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>M.</givenNames><familyName>Cosseddu</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a2"><personName><givenNames>N.</givenNames><familyName>Meucci</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a3"><personName><givenNames>C.</givenNames><familyName>Mariani</familyName></personName></creator><creator creatorRole="author" xml:id="cr7" affiliationRef="#a2"><personName><givenNames>G.</givenNames><familyName>Pezzoli</familyName></personName></creator><creator creatorRole="author" xml:id="cr8" affiliationRef="#a1"><personName><givenNames>A.</givenNames><familyName>Padovani</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1"><unparsedAffiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</unparsedAffiliation></affiliation><affiliation xml:id="a2"><unparsedAffiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</unparsedAffiliation></affiliation><affiliation xml:id="a3" countryCode="IT"><unparsedAffiliation>Neurology Unit, Ospedale Sacco, Milan, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">cognitive disorders and dementia</keyword><keyword xml:id="k2">frontotemporal dementia</keyword><keyword xml:id="k3">movement disorders</keyword><keyword xml:id="k4">neurodegenerative</keyword><keyword xml:id="k5">neurological disorders</keyword><keyword xml:id="k6">progressive supranuclear palsy</keyword></keywordGroup><supportingInformation><p><b>Table S1.</b> Family history questionnaire (translated from Italian to English).</p><supportingInfoItem><mediaResource alt="supporting info item" href="urn-x:wiley:13515101:media:ene3081:ENE_3081_sm_TableS1"></mediaResource><caption>Supporting info item</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><p><b>Background: </b> Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available.</p><p><b>Objective: </b> To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients.</p><p><b>Methods: </b> Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire.</p><p><b>Results: </b> One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (<i>n</i> = 41) and in 31.7% of CBS (<i>n</i> = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, <i>P</i> = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, <i>P</i> = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, <i>P</i>= 0.877).</p><p><b>Conclusions: </b> These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome</title></titleInfo><titleInfo type="abbreviated"><title>Familial aggregation in PSP and CBS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome</title></titleInfo><name type="personal"><namePart type="given">B.</namePart><namePart type="family">Borroni</namePart><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Goldwurm</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Cerini</namePart><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Cosseddu</namePart><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">N.</namePart><namePart type="family">Meucci</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Mariani</namePart><affiliation>Neurology Unit, Ospedale Sacco, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Pezzoli</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Padovani</namePart><affiliation>From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2011-01</dateIssued><edition>Received 28 November 2009 Accepted 26 March 2010</edition><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">1</extent></physicalDescription><abstract lang="en">Background: Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available. Objective: To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients. Methods: Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow‐up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire. Results: One hundred and twenty‐nine PSP (age at onset = 66.6 ± 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 ± 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age‐matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH−, 67.0 ± 7.3 vs. 66.7 ± 7.1, P = 0.788) and in CBS (62.6 ± 7.9 vs. 62.9 ± 9.5, P= 0.877). Conclusions: These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.</abstract><subject lang="en"><genre>Keywords</genre><topic>cognitive disorders and dementia</topic><topic>frontotemporal dementia</topic><topic>movement disorders</topic><topic>neurodegenerative</topic><topic>neurological disorders</topic><topic>progressive supranuclear palsy</topic></subject><relatedItem type="host"><titleInfo><title>European Journal of Neurology</title></titleInfo><genre type="Journal">journal</genre><note type="content"> Table S1. Family history questionnaire (translated from Italian to English).Supporting Info Item: Supporting info item - </note><identifier type="ISSN">1351-5101</identifier><identifier type="eISSN">1468-1331</identifier><identifier type="DOI">10.1111/(ISSN)1468-1331</identifier><identifier type="PublisherID">ENE</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>195</start><end>197</end><total>3</total></extent></part></relatedItem><identifier type="istex">ECEBB49095C3E370F1CB7427A538F6F394482C23</identifier><identifier type="DOI">10.1111/j.1468-1331.2010.03081.x</identifier><identifier type="ArticleID">ENE3081</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2010 The Author(s). 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