Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Identifieur interne : 000280 ( Istex/Corpus ); précédent : 000279; suivant : 000281Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
Auteurs : Silke Appel-Cresswell ; Carles Vilarino-Guell ; Mary Encarnacion ; Holly Sherman ; Irene Yu ; Brinda Shah ; David Weir ; Christina Thompson ; Chelsea Szu-Tu ; Joanne Trinh ; Jan O. Aasly ; Alex Rajput ; Ali H. Rajput ; A. Jon Stoessl ; Matthew J. FarrerSource :
- [ 0885-3185 ]
Abstract
Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.
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DOI: 10.1002/mds.25421
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Aasly</name><affiliation><mods:affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</mods:affiliation></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</mods:affiliation></affiliation></author><author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A." last="Jon Stoessl">A. Jon Stoessl</name><affiliation><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A69F2C0A79482BB5DCCFA31212CF5079284A208D</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1002/mds.25421</idno><idno type="url">https://api-v5.istex.fr/document/A69F2C0A79482BB5DCCFA31212CF5079284A208D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000280</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000280</idno></publicationStmt><sourceDesc><biblStruct><analytic><author><name sortKey="Appel Resswell, Silke" sort="Appel Resswell, Silke" uniqKey="Appel Resswell S" first="Silke" last="Appel-Cresswell">Silke Appel-Cresswell</name><affiliation><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: silkec@mail.ubc.ca</mods:affiliation></affiliation></author><author><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Encarnacion, Mary" sort="Encarnacion, Mary" uniqKey="Encarnacion M" first="Mary" last="Encarnacion">Mary Encarnacion</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Sherman, Holly" sort="Sherman, Holly" uniqKey="Sherman H" first="Holly" last="Sherman">Holly Sherman</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Yu, Irene" sort="Yu, Irene" uniqKey="Yu I" first="Irene" last="Yu">Irene Yu</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Shah, Brinda" sort="Shah, Brinda" uniqKey="Shah B" first="Brinda" last="Shah">Brinda Shah</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Weir, David" sort="Weir, David" uniqKey="Weir D" first="David" last="Weir">David Weir</name><affiliation><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Thompson, Christina" sort="Thompson, Christina" uniqKey="Thompson C" first="Christina" last="Thompson">Christina Thompson</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Szu U, Chelsea" sort="Szu U, Chelsea" uniqKey="Szu U C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Trinh, Joanne" sort="Trinh, Joanne" uniqKey="Trinh J" first="Joanne" last="Trinh">Joanne Trinh</name><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O." last="Aasly">Jan O. Aasly</name><affiliation><mods:affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</mods:affiliation></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</mods:affiliation></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H." last="Rajput">Ali H. Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</mods:affiliation></affiliation></author><author><name sortKey="Jon Stoessl, A" sort="Jon Stoessl, A" uniqKey="Jon Stoessl A" first="A." last="Jon Stoessl">A. Jon Stoessl</name><affiliation><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</mods:affiliation></affiliation></author></analytic><series><idno type="ISSN">0885-3185</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Silke Appel‐Cresswell MD</name><affiliations><json:string>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</json:string><json:string>E-mail: silkec@mail.ubc.ca</json:string></affiliations></json:item><json:item><name>Carles Vilarino‐Guell PhD</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Mary Encarnacion BSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Holly Sherman BSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Irene Yu MSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Brinda Shah MSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>David Weir MSc</name><affiliations><json:string>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Christina Thompson BSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Chelsea Szu‐Tu MSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Joanne Trinh BSc</name><affiliations><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Jan O. Aasly MD</name><affiliations><json:string>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</json:string></affiliations></json:item><json:item><name>Alex Rajput MD</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</json:string></affiliations></json:item><json:item><name>Ali H. Rajput MD</name><affiliations><json:string>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</json:string></affiliations></json:item><json:item><name>A. Jon Stoessl MD</name><affiliations><json:string>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</json:string><json:string>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>parkinson disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>alpha-synuclein</value></json:item></subject><articleId><json:string>MDS25421</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><qualityIndicators><score>2.803</score><pdfVersion>1.4</pdfVersion><pdfPageSize>612 x 809.972 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>267</abstractCharCount><pdfWordCount>1895</pdfWordCount><pdfCharCount>12835</pdfCharCount><pdfPageCount>3</pdfPageCount><abstractWordCount>34</abstractWordCount></qualityIndicators><title>Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease</title><genre><json:string>article</json:string></genre><host><title>Movement Disorders</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi><issn><json:string>0885-3185</json:string></issn><eissn><json:string>1531-8257</json:string></eissn><publisherId><json:string>MDS</json:string></publisherId><volume>28</volume><issue>6</issue><pages><first>811</first><last>813</last><total>3</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Brief Report</value></json:item></subject></host><categories><wos><json:string>science</json:string><json:string>clinical neurology</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>neurology & neurosurgery</json:string></scienceMetrix></categories><publicationDate>2013</publicationDate><copyrightDate>2013</copyrightDate><doi><json:string>10.1002/mds.25421</json:string></doi><id>A69F2C0A79482BB5DCCFA31212CF5079284A208D</id><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api-v5.istex.fr/document/A69F2C0A79482BB5DCCFA31212CF5079284A208D/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api-v5.istex.fr/document/A69F2C0A79482BB5DCCFA31212CF5079284A208D/fulltext/zip</uri></json:item><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api-v5.istex.fr/document/A69F2C0A79482BB5DCCFA31212CF5079284A208D/fulltext/txt</uri></json:item></fulltext><metadata><mods version="3.6"><titleInfo lang="en"><title>Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>α‐ Synuclein p.H50q, A Novel Mutation For Pd</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Silke</namePart><namePart type="family">Appel‐Cresswell</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><affiliation>E-mail: silkec@mail.ubc.ca</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carles</namePart><namePart type="family">Vilarino‐Guell</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mary</namePart><namePart type="family">Encarnacion</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Holly</namePart><namePart type="family">Sherman</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Irene</namePart><namePart type="family">Yu</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brinda</namePart><namePart type="family">Shah</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Weir</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christina</namePart><namePart type="family">Thompson</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chelsea</namePart><namePart type="family">Szu‐Tu</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joanne</namePart><namePart type="family">Trinh</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jan O.</namePart><namePart type="family">Aasly</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, St. Olav's Hospital, Trondheim, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alex</namePart><namePart type="family">Rajput</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ali H.</namePart><namePart type="family">Rajput</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatchewan, Saskatoon, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Jon Stoessl</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Medicine (Neurology), Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, British Columbia, Canada</affiliation><affiliation>Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, British Columbia, Vancouver, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><dateIssued encoding="w3cdtf">2013-06</dateIssued><dateCreated encoding="w3cdtf">2013-02-14</dateCreated><dateCaptured encoding="w3cdtf">2012-09-11</dateCaptured><dateValid encoding="w3cdtf">2013-01-27</dateValid><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic multiplications have been identified as causes for autosomal‐dominantly inherited Parkinsonism.</abstract><abstract>Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa‐responsive Parkinson's disease with a family history of parkinsonism and dementia.</abstract><abstract>The variant was not observed in public databases or identified in unrelated subjects.</abstract><abstract>The substitution's evolutionary conservation and protein modeling provide additional support for pathogenicity as the amino acid perturbs the same amphipathic alpha helical structure as the previously described pathogenic mutations. © 2013 Movement Disorder Society</abstract><subject><genre>keywords</genre><topic>parkinson disease</topic><topic>genetic</topic><topic>alpha-synuclein</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov Disord.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Brief Report</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>2013</date><detail type="volume"><caption>vol.</caption><number>28</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>811</start><end>813</end><total>3</total></extent></part></relatedItem><identifier type="istex">A69F2C0A79482BB5DCCFA31212CF5079284A208D</identifier><identifier type="DOI">10.1002/mds.25421</identifier><identifier type="ArticleID">MDS25421</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2013 Movement Disorder SocietyCopyright © 2013 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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