A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
Identifieur interne : 001A74 ( PubMed/Checkpoint ); précédent : 001A73; suivant : 001A75A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
Auteurs : Parvoneh Poorkaj [États-Unis] ; Wendy H. Raskind ; James B. Leverenz ; Mark Matsushita ; Cyrus P. Zabetian ; Ali Samii ; Sophia Kim ; Nayiry Gazi ; John G. Nutt ; John Wolff ; Dora Yearout ; J Lynne Greenup ; Ellen J. Steinbart ; Thomas D. BirdSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Chromosomes, Human, X (genetics), DNA Mutational Analysis, Family Health, Genes, X-Linked (genetics), Genetic Predisposition to Disease, Genotype, Humans, Male, Microsatellite Repeats (genetics), Middle Aged, Parkinson Disease (complications), Tauopathies (complications), Tauopathies (genetics).
- MESH :
- complications : Parkinson Disease, Tauopathies.
- genetics : Chromosomes, Human, X, Genes, X-Linked, Microsatellite Repeats, Tauopathies.
- Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Family Health, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged.
Abstract
The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson's disease (PD), additional PD loci are likely to exist. We recently identified a multigenerational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant four-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD(max) score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false-positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.
DOI: 10.1002/mds.23085
PubMed: 20629132
Affiliations:
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pubmed:20629132Le document en format XML
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Raskind</name></author><author><name sortKey="Leverenz, James B" sort="Leverenz, James B" uniqKey="Leverenz J" first="James B" last="Leverenz">James B. Leverenz</name></author><author><name sortKey="Matsushita, Mark" sort="Matsushita, Mark" uniqKey="Matsushita M" first="Mark" last="Matsushita">Mark Matsushita</name></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P" last="Zabetian">Cyrus P. Zabetian</name></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name></author><author><name sortKey="Kim, Sophia" sort="Kim, Sophia" uniqKey="Kim S" first="Sophia" last="Kim">Sophia Kim</name></author><author><name sortKey="Gazi, Nayiry" sort="Gazi, Nayiry" uniqKey="Gazi N" first="Nayiry" last="Gazi">Nayiry Gazi</name></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G" last="Nutt">John G. 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Bird</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23085</idno><idno type="RBID">pubmed:20629132</idno><idno type="pmid">20629132</idno><idno type="wicri:Area/PubMed/Corpus">001747</idno><idno type="wicri:Area/PubMed/Curation">001747</idno><idno type="wicri:Area/PubMed/Checkpoint">001A74</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.</title><author><name sortKey="Poorkaj, Parvoneh" sort="Poorkaj, Parvoneh" uniqKey="Poorkaj P" first="Parvoneh" last="Poorkaj">Parvoneh Poorkaj</name><affiliation wicri:level="4"><nlm:affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA. pips@uw.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195</wicri:regionArea><orgName type="university">Université de Washington</orgName><placeName><settlement type="city">Seattle</settlement><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Raskind, Wendy H" sort="Raskind, Wendy H" uniqKey="Raskind W" first="Wendy H" last="Raskind">Wendy H. Raskind</name></author><author><name sortKey="Leverenz, James B" sort="Leverenz, James B" uniqKey="Leverenz J" first="James B" last="Leverenz">James B. Leverenz</name></author><author><name sortKey="Matsushita, Mark" sort="Matsushita, Mark" uniqKey="Matsushita M" first="Mark" last="Matsushita">Mark Matsushita</name></author><author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P" last="Zabetian">Cyrus P. Zabetian</name></author><author><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name></author><author><name sortKey="Kim, Sophia" sort="Kim, Sophia" uniqKey="Kim S" first="Sophia" last="Kim">Sophia Kim</name></author><author><name sortKey="Gazi, Nayiry" sort="Gazi, Nayiry" uniqKey="Gazi N" first="Nayiry" last="Gazi">Nayiry Gazi</name></author><author><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G" last="Nutt">John G. Nutt</name></author><author><name sortKey="Wolff, John" sort="Wolff, John" uniqKey="Wolff J" first="John" last="Wolff">John Wolff</name></author><author><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name></author><author><name sortKey="Greenup, J Lynne" sort="Greenup, J Lynne" uniqKey="Greenup J" first="J Lynne" last="Greenup">J Lynne Greenup</name></author><author><name sortKey="Steinbart, Ellen J" sort="Steinbart, Ellen J" uniqKey="Steinbart E" first="Ellen J" last="Steinbart">Ellen J. Steinbart</name></author><author><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D" last="Bird">Thomas D. Bird</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Chromosomes, Human, X (genetics)</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Genes, X-Linked (genetics)</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Middle Aged</term><term>Parkinson Disease (complications)</term><term>Tauopathies (complications)</term><term>Tauopathies (genetics)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinson Disease</term><term>Tauopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, X</term><term>Genes, X-Linked</term><term>Microsatellite Repeats</term><term>Tauopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson's disease (PD), additional PD loci are likely to exist. We recently identified a multigenerational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant four-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD(max) score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false-positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20629132</PMID><DateCreated><Year>2010</Year><Month>08</Month><Day>02</Day></DateCreated><DateCompleted><Year>2010</Year><Month>12</Month><Day>02</Day></DateCompleted><DateRevised><Year>2014</Year><Month>09</Month><Day>09</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>10</Issue><PubDate><Year>2010</Year><Month>Jul</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.</ArticleTitle><Pagination><MedlinePgn>1409-17</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23085</ELocationID><Abstract><AbstractText>The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson's disease (PD), additional PD loci are likely to exist. We recently identified a multigenerational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant four-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD(max) score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false-positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.</AbstractText><CopyrightInformation>(c) 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Poorkaj</LastName><ForeName>Parvoneh</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA. pips@uw.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Raskind</LastName><ForeName>Wendy H</ForeName><Initials>WH</Initials></Author><Author ValidYN="Y"><LastName>Leverenz</LastName><ForeName>James B</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Matsushita</LastName><ForeName>Mark</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Zabetian</LastName><ForeName>Cyrus P</ForeName><Initials>CP</Initials></Author><Author ValidYN="Y"><LastName>Samii</LastName><ForeName>Ali</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Sophia</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Gazi</LastName><ForeName>Nayiry</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Nutt</LastName><ForeName>John G</ForeName><Initials>JG</Initials></Author><Author ValidYN="Y"><LastName>Wolff</LastName><ForeName>John</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Yearout</LastName><ForeName>Dora</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Greenup</LastName><ForeName>J Lynne</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Steinbart</LastName><ForeName>Ellen J</ForeName><Initials>EJ</Initials></Author><Author ValidYN="Y"><LastName>Bird</LastName><ForeName>Thomas D</ForeName><Initials>TD</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P50 NS062684</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 NS062684-02</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2000 Jun;66(6):1945-57</RefSource><PMID Version="1">10796874</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2004 Aug 15;129A(1):44-50</RefSource><PMID Version="1">15266615</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2001 Jun 26;56(12):1702-6</RefSource><PMID Version="1">11425937</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2001 Jul 10;57(1):127-30</RefSource><PMID Version="1">11445641</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2001 Sep-Oct;74(1-2):89-97</RefSource><PMID Version="1">11592806</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>JAMA. 2001 Nov 14;286(18):2245-50</RefSource><PMID Version="1">11710889</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2002 Apr;70(4):985-93</RefSource><PMID Version="1">11875758</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2002 Mar 26;58(6):881-4</RefSource><PMID Version="1">11914402</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2002 Jul;71(1):124-35</RefSource><PMID Version="1">12058349</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 2002 Nov;61(11):935-46</RefSource><PMID Version="1">12430710</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10347-52</RefSource><PMID Version="1">12928496</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2003 Oct 15;12(20):2599-608</RefSource><PMID Version="1">12925570</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 1989 Jun;86(11):4175-8</RefSource><PMID Version="1">2726769</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Acta Neuropathol. 1991;82(4):239-59</RefSource><PMID Version="1">1759558</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1992 Apr;50(4):808-15</RefSource><PMID Version="1">1550125</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Hered. 1994 Jul-Aug;44(4):225-37</RefSource><PMID Version="1">8056435</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1995 May;56(5):1132-9</RefSource><PMID Version="1">7726169</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurobiol Aging. 1997 Jul-Aug;18(4 Suppl):S1-2</RefSource><PMID Version="1">9330978</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 1998 Mar;18(3):262-5</RefSource><PMID Version="1">9500549</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genomics. 1998 Apr 1;49(1):52-8</RefSource><PMID Version="1">9570948</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1998 Sep;63(3):861-9</RefSource><PMID Version="1">9718341</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 1999 Mar;14(2):219-24</RefSource><PMID Version="1">10091612</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuropathol Exp Neurol. 1954 Jan;13(1):50-9</RefSource><PMID Version="1">13118374</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2005 Jan;62(1):74-8</RefSource><PMID Version="1">15642852</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2006 Oct;38(10):1184-91</RefSource><PMID Version="1">16964263</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2006 Nov;7(4):223-9</RefSource><PMID Version="1">16816977</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2007 Mar;80(3):393-406</RefSource><PMID Version="1">17273961</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Science. 2007 Aug 31;317(5842):1179-80</RefSource><PMID Version="1">17761871</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2008 Jun;82(6):1375-84</RefSource><PMID Version="1">18513678</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Acta Neuropathol. 2008 Jul;116(1):25-35</RefSource><PMID Version="1">18389263</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neuroreport. 2009 Jan 28;20(2):150-6</RefSource><PMID Version="1">19151598</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2009 Jan 20;72(3):240-5</RefSource><PMID Version="1">19038853</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mov Disord. 2009 May 15;24(7):1034-41</RefSource><PMID Version="1">19343804</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2001 Feb;68(2):515-22</RefSource><PMID Version="1">11170900</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D041321">Chromosomes, Human, X</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050172">Genes, X-Linked</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018895">Microsatellite Repeats</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D024801">Tauopathies</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS297839</OtherID><OtherID Source="NLM">PMC3123999</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>7</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>7</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>12</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23085</ArticleId><ArticleId IdType="pubmed">20629132</ArticleId><ArticleId IdType="pmc">PMC3123999</ArticleId><ArticleId IdType="mid">NIHMS297839</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Washington (État)</li></region><settlement><li>Seattle</li></settlement><orgName><li>Université de Washington</li></orgName></list><tree><noCountry><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D" last="Bird">Thomas D. Bird</name><name sortKey="Gazi, Nayiry" sort="Gazi, Nayiry" uniqKey="Gazi N" first="Nayiry" last="Gazi">Nayiry Gazi</name><name sortKey="Greenup, J Lynne" sort="Greenup, J Lynne" uniqKey="Greenup J" first="J Lynne" last="Greenup">J Lynne Greenup</name><name sortKey="Kim, Sophia" sort="Kim, Sophia" uniqKey="Kim S" first="Sophia" last="Kim">Sophia Kim</name><name sortKey="Leverenz, James B" sort="Leverenz, James B" uniqKey="Leverenz J" first="James B" last="Leverenz">James B. Leverenz</name><name sortKey="Matsushita, Mark" sort="Matsushita, Mark" uniqKey="Matsushita M" first="Mark" last="Matsushita">Mark Matsushita</name><name sortKey="Nutt, John G" sort="Nutt, John G" uniqKey="Nutt J" first="John G" last="Nutt">John G. Nutt</name><name sortKey="Raskind, Wendy H" sort="Raskind, Wendy H" uniqKey="Raskind W" first="Wendy H" last="Raskind">Wendy H. Raskind</name><name sortKey="Samii, Ali" sort="Samii, Ali" uniqKey="Samii A" first="Ali" last="Samii">Ali Samii</name><name sortKey="Steinbart, Ellen J" sort="Steinbart, Ellen J" uniqKey="Steinbart E" first="Ellen J" last="Steinbart">Ellen J. Steinbart</name><name sortKey="Wolff, John" sort="Wolff, John" uniqKey="Wolff J" first="John" last="Wolff">John Wolff</name><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P" last="Zabetian">Cyrus P. Zabetian</name></noCountry><country name="États-Unis"><region name="Washington (État)"><name sortKey="Poorkaj, Parvoneh" sort="Poorkaj, Parvoneh" uniqKey="Poorkaj P" first="Parvoneh" last="Poorkaj">Parvoneh Poorkaj</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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