Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study
Identifieur interne : 000393 ( Main/Corpus ); précédent : 000392; suivant : 000394Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study
Auteurs : Shannon K. Mcdonnell ; Daniel J. Schaid ; Alexis Elbaz ; Kari J. Strain ; James H. Bower ; J. Eric Ahlskog ; Demetrius M. Maraganore ; Walter A. RoccaSource :
- Annals of Neurology [ 0364-5134 ] ; 2006-05.
Abstract
Objective: To conduct complex segregation analyses of Parkinson's disease (PD). Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795
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DOI: 10.1002/ana.20844
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Mcdonnell</name><affiliation><mods:affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation></author><author><name sortKey="Schaid, Daniel J" sort="Schaid, Daniel J" uniqKey="Schaid D" first="Daniel J." last="Schaid">Daniel J. 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Strain</name><affiliation><mods:affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation></author><author><name sortKey="Bower, James H" sort="Bower, James H" uniqKey="Bower J" first="James H." last="Bower">James H. Bower</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation></author><author><name sortKey="Ahlskog, J Eric" sort="Ahlskog, J Eric" uniqKey="Ahlskog J" first="J. Eric" last="Ahlskog">J. Eric Ahlskog</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation></author><author><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation></author><author><name sortKey="Rocca, Walter A" sort="Rocca, Walter A" uniqKey="Rocca W" first="Walter A." last="Rocca">Walter A. Rocca</name><affiliation><mods:affiliation>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-05">2006-05</date><biblScope unit="volume">59</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="788">788</biblScope><biblScope unit="page" to="795">795</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">DAC0969A7A3E0908EB0D5ABA5625A358842CE640</idno><idno type="DOI">10.1002/ana.20844</idno><idno type="ArticleID">ANA20844</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: To conduct complex segregation analyses of Parkinson's disease (PD). Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Shannon K. McDonnell MS</name><affiliations><json:string>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item><json:item><name>Daniel J. Schaid PhD</name><affiliations><json:string>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item><json:item><name>Alexis Elbaz MD, PhD</name><affiliations><json:string>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</json:string><json:string>Institut National de la Sante et de la Recherche Médicale Unit 708, Hôpital de la Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>Kari J. Strain BS</name><affiliations><json:string>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item><json:item><name>James H. Bower MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item><json:item><name>J. Eric Ahlskog PhD, MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item><json:item><name>Demetrius M. Maraganore MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item><json:item><name>Walter A. Rocca MD, MPH</name><affiliations><json:string>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</json:string><json:string>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</json:string></affiliations></json:item></author><articleId><json:string>ANA20844</json:string></articleId><language><json:string>eng</json:string></language><abstract>Objective: To conduct complex segregation analyses of Parkinson's disease (PD). Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795</abstract><qualityIndicators><score>7.594</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 783 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>1522</abstractCharCount><pdfWordCount>4726</pdfWordCount><pdfCharCount>30892</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>239</abstractWordCount></qualityIndicators><title>Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study</title><genre><json:string>article</json:string></genre><host><volume>59</volume><publisherId><json:string>ANA</json:string></publisherId><pages><total>8</total><last>795</last><first>788</first></pages><issn><json:string>0364-5134</json:string></issn><issue>5</issue><subject><json:item><value>Original Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8249</json:string></eissn><title>Annals of Neurology</title><doi><json:string>10.1002/(ISSN)1531-8249</json:string></doi></host><publicationDate>2006</publicationDate><copyrightDate>2006</copyrightDate><doi><json:string>10.1002/ana.20844</json:string></doi><id>DAC0969A7A3E0908EB0D5ABA5625A358842CE640</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/DAC0969A7A3E0908EB0D5ABA5625A358842CE640/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/DAC0969A7A3E0908EB0D5ABA5625A358842CE640/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/DAC0969A7A3E0908EB0D5ABA5625A358842CE640/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2006</date></publicationStmt><notesStmt><note>NIH - No. NINDS R01 NS33978; No. NIEHS R01 ES10751; No. NIAMSD R01 AR30582;</note><note>INSERM Unit 360</note><note>Mayo Foundation</note><note>National Center for Research Resources - No. RR03655;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study</title><author><persName><forename type="first">Shannon K.</forename><surname>McDonnell</surname></persName><roleName type="degree">MS</roleName><affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author><author><persName><forename type="first">Daniel J.</forename><surname>Schaid</surname></persName><roleName type="degree">PhD</roleName><affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author><author><persName><forename type="first">Alexis</forename><surname>Elbaz</surname></persName><roleName type="degree">MD, PhD</roleName><note type="biography">A.E. participated in this study while on leave from the Institut National de la Sante et de la Recherche Médicale Unit 360.</note><affiliation>A.E. participated in this study while on leave from the Institut National de la Sante et de la Recherche Médicale Unit 360.</affiliation><affiliation>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><affiliation>Institut National de la Sante et de la Recherche Médicale Unit 708, Hôpital de la Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">Kari J.</forename><surname>Strain</surname></persName><roleName type="degree">BS</roleName><affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author><author><persName><forename type="first">James H.</forename><surname>Bower</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author><author><persName><forename type="first">J. Eric</forename><surname>Ahlskog</surname></persName><roleName type="degree">PhD, MD</roleName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author><author><persName><forename type="first">Demetrius M.</forename><surname>Maraganore</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author><author><persName><forename type="first">Walter A.</forename><surname>Rocca</surname></persName><roleName type="degree">MD, MPH</roleName><note type="correspondence"><p>Correspondence: Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905</p></note><affiliation>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation></author></analytic><monogr><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="pISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><idno type="DOI">10.1002/(ISSN)1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-05"></date><biblScope unit="volume">59</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="788">788</biblScope><biblScope unit="page" to="795">795</biblScope></imprint></monogr><idno type="istex">DAC0969A7A3E0908EB0D5ABA5625A358842CE640</idno><idno type="DOI">10.1002/ana.20844</idno><idno type="ArticleID">ANA20844</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Objective: To conduct complex segregation analyses of Parkinson's disease (PD). Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. 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Eric</givenNames><familyName>Ahlskog</familyName><degrees>PhD, MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Demetrius M.</givenNames><familyName>Maraganore</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2 #af4" corresponding="yes"><personName><givenNames>Walter A.</givenNames><familyName>Rocca</familyName><degrees>MD, MPH</degrees></personName><contactDetails><email>rocca@mayo.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Institut National de la Sante et de la Recherche Médicale Unit 708, Hôpital de la Salpêtrière, Paris, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</unparsedAffiliation></affiliation></affiliationGroup><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>NINDS R01 NS33978</fundingNumber><fundingNumber>NIEHS R01 ES10751</fundingNumber><fundingNumber>NIAMSD R01 AR30582</fundingNumber></fundingInfo><fundingInfo><fundingAgency>INSERM Unit 360</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Mayo Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Center for Research Resources</fundingAgency><fundingNumber>RR03655</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Objective</title><p>To conduct complex segregation analyses of Parkinson's disease (PD).</p></section><section xml:id="abs1-2"><title type="main">Methods</title><p>Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system.</p></section><section xml:id="abs1-3"><title type="main">Results</title><p>Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model.</p></section><section xml:id="abs1-4"><title type="main">Interpretation</title><p>The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>A.E. participated in this study while on leave from the Institut National de la Sante et de la Recherche Médicale Unit 360.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Familial Aggregation of PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study</title></titleInfo><name type="personal"><namePart type="given">Shannon K.</namePart><namePart type="family">McDonnell</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daniel J.</namePart><namePart type="family">Schaid</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexis</namePart><namePart type="family">Elbaz</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><affiliation>Institut National de la Sante et de la Recherche Médicale Unit 708, Hôpital de la Salpêtrière, Paris, France</affiliation><description>A.E. participated in this study while on leave from the Institut National de la Sante et de la Recherche Médicale Unit 360.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kari J.</namePart><namePart type="family">Strain</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Division of Biostatistics, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">James H.</namePart><namePart type="family">Bower</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. Eric</namePart><namePart type="family">Ahlskog</namePart><namePart type="termsOfAddress">PhD, MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Demetrius M.</namePart><namePart type="family">Maraganore</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Walter A.</namePart><namePart type="family">Rocca</namePart><namePart type="termsOfAddress">MD, MPH</namePart><affiliation>Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine, Rochester, MN</affiliation><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN</affiliation><description>Correspondence: Division of Epidemiology, Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-05</dateIssued><dateCaptured encoding="w3cdtf">2005-08-23</dateCaptured><dateValid encoding="w3cdtf">2006-02-26</dateValid><copyrightDate encoding="w3cdtf">2006</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">4</extent><extent unit="references">37</extent><extent unit="words">5890</extent></physicalDescription><abstract lang="en">Objective: To conduct complex segregation analyses of Parkinson's disease (PD). Methods: Data on the familial aggregation of PD remain conflicting. We conducted a historical cohort study of 1,234 relatives of 162 patients with PD representative of people of Olmsted County, MN, and of 3,009 relatives of 411 patients with PD referred to the Mayo Clinic. Relatives were interviewed and screened for parkinsonism either directly or through a proxy, those who screened positive were examined, or a copy of their medical record was obtained to confirm the diagnosis. For subjects who resided in Olmsted County, additional information was obtained from the archives of the Olmsted County Historical Society and from a records‐linkage system. Results: Thirty‐two relatives of population‐based probands and 69 relatives of referral patients developed PD (101 in total). Combining population‐based and referral samples, the model that best explained the familial clustering of PD overall was a major gene with additive effect on the penetrance. This model predicted an average decrease in age at onset of PD of approximately 18 years for each copy of the putative high‐risk allele. The best fitting model for younger onset PD (age ≤ 59 years) was an autosomal recessive model. The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. Interpretation: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance. Ann Neurol 2006;59:788–795</abstract><note type="funding">NIH - No. NINDS R01 NS33978; No. NIEHS R01 ES10751; No. NIAMSD R01 AR30582; </note><note type="funding">INSERM Unit 360</note><note type="funding">Mayo Foundation</note><note type="funding">National Center for Research Resources - No. RR03655; </note><relatedItem type="host"><titleInfo><title>Annals of Neurology</title><subTitle>Official Journal of the American Neurological Association and the Child Neurology Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Ann Neurol.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Original Article</topic></subject><identifier type="ISSN">0364-5134</identifier><identifier type="eISSN">1531-8249</identifier><identifier type="DOI">10.1002/(ISSN)1531-8249</identifier><identifier type="PublisherID">ANA</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>59</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>788</start><end>795</end><total>8</total></extent></part></relatedItem><identifier type="istex">DAC0969A7A3E0908EB0D5ABA5625A358842CE640</identifier><identifier type="DOI">10.1002/ana.20844</identifier><identifier type="ArticleID">ANA20844</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 American Neurological Association</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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