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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Loss-of-function mutations in <italic>RAB39B</italic> are associated with typical early-onset Parkinson disease</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name></author><author><name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name></author><author><name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name></author><author><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name></author><author><name sortKey="Federoff, Monica" sort="Federoff, Monica" uniqKey="Federoff M" first="Monica" last="Federoff">Monica Federoff</name></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27066548</idno><idno type="pmc">4821081</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821081</idno><idno type="RBID">PMC:4821081</idno><idno type="doi">10.1212/NXG.0000000000000009</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000337</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000337</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Loss-of-function mutations in <italic>RAB39B</italic> are associated with typical early-onset Parkinson disease</title><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name></author><author><name sortKey="Cormier Dequaire, Florence" sort="Cormier Dequaire, Florence" uniqKey="Cormier Dequaire F" first="Florence" last="Cormier-Dequaire">Florence Cormier-Dequaire</name></author><author><name sortKey="Condroyer, Christel" sort="Condroyer, Christel" uniqKey="Condroyer C" first="Christel" last="Condroyer">Christel Condroyer</name></author><author><name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name></author><author><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name></author><author><name sortKey="Majounie, Elisa" sort="Majounie, Elisa" uniqKey="Majounie E" first="Elisa" last="Majounie">Elisa Majounie</name></author><author><name sortKey="Federoff, Monica" sort="Federoff, Monica" uniqKey="Federoff M" first="Monica" last="Federoff">Monica Federoff</name></author><author><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Neurology: Genetics</title><idno type="eISSN">2376-7839</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Cheng, H" uniqKey="Cheng H">H Cheng</name></author><author><name sortKey="Ma, Y" uniqKey="Ma Y">Y Ma</name></author><author><name sortKey="Ni, X" uniqKey="Ni X">X Ni</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wilson, Gr" uniqKey="Wilson G">GR Wilson</name></author><author><name sortKey="Sim, Jc" uniqKey="Sim J">JC Sim</name></author><author><name sortKey="Mclean, C" uniqKey="Mclean C">C McLean</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vanmarsenille, L" uniqKey="Vanmarsenille L">L Vanmarsenille</name></author><author><name sortKey="Giannandrea, M" uniqKey="Giannandrea M">M Giannandrea</name></author><author><name sortKey="Fieremans, N" uniqKey="Fieremans N">N Fieremans</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Andersen, Ef" uniqKey="Andersen E">EF Andersen</name></author><author><name sortKey="Baldwin, Ee" uniqKey="Baldwin E">EE Baldwin</name></author><author><name sortKey="Ellingwood, S" uniqKey="Ellingwood S">S Ellingwood</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Giannandrea, M" uniqKey="Giannandrea M">M Giannandrea</name></author><author><name sortKey="Bianchi, V" uniqKey="Bianchi V">V Bianchi</name></author><author><name sortKey="Mignogna, Ml" uniqKey="Mignogna M">ML Mignogna</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Russo, S" uniqKey="Russo S">S Russo</name></author><author><name sortKey="Cogliati, F" uniqKey="Cogliati F">F Cogliati</name></author><author><name sortKey="Cavalleri, F" uniqKey="Cavalleri F">F Cavalleri</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dhungel, N" uniqKey="Dhungel N">N Dhungel</name></author><author><name sortKey="Eleuteri, S" uniqKey="Eleuteri S">S Eleuteri</name></author><author><name sortKey="Li, L" uniqKey="Li L">L Li</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="brief-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Neurol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Neurol Genet</journal-id><journal-id journal-id-type="hwp">nng</journal-id><journal-id journal-id-type="publisher-id">NNG</journal-id><journal-title-group><journal-title>Neurology: Genetics</journal-title></journal-title-group><issn pub-type="epub">2376-7839</issn><publisher><publisher-name>Wolters Kluwer</publisher-name><publisher-loc>Baltimore</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27066548</article-id><article-id pub-id-type="pmc">4821081</article-id><article-id pub-id-type="publisher-id">NG2015000232</article-id><article-id pub-id-type="doi">10.1212/NXG.0000000000000009</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>91</subject><subject>165</subject><subject>229</subject></subj-group><subj-group subj-group-type="heading"><subject>Clinical/Scientific Notes</subject></subj-group></article-categories><title-group><article-title>Loss-of-function mutations in <italic>RAB39B</italic> are associated with typical early-onset Parkinson disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lesage</surname><given-names>Suzanne</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Bras</surname><given-names>Jose</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Alzheimer's Society</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Cormier-Dequaire</surname><given-names>Florence</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Condroyer</surname><given-names>Christel</given-names></name><degrees>MSc</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Nicolas</surname><given-names>Aude</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Darwent</surname><given-names>Lee</given-names></name><degrees>MSc</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Guerreiro</surname><given-names>Rita</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Majounie</surname><given-names>Elisa</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Federoff</surname><given-names>Monica</given-names></name><degrees>MSc</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Heutink</surname><given-names>Peter</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) non-profit entity Fondation Alzheimer France (2) non-profit entity Prinses Beatrix Fonds Netherlands</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Wood</surname><given-names>Nicholas W.</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>Ed board member Neurogenetics 2005-2014 Journal of PD associate ed 2010- Journal of neurodegenerative disease 2010- Progress in Neurology and Psychiatry 2002-</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>MRC- UK</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Wellcome trust Parkinson's UK</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Gasser</surname><given-names>Thomas</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1) none (2) Joint programming in neurodegenerative diseases</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>(1) MedUpdate: speakers honoraria and funding for travel (2) Movement Disorders Society: funding for travel Van Andel Institute: speakers honorarium and funding for travel Michael J Fox Foundation: funding for travel</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>(1) Parkinsonism and Related Disorders, editorial board member, since 2007; (2) Movement Disorders, editorial board member; (3) Journal of Neurology, editorial board member</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>(1) KASPP (LRRK2) Gene, its Production and Use for the Detection and Treatment of Neurodegenerative Diseases</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>(1) Novartis; (2) Merck-Serono; (3) Schwarz Pharma; (4) Boehringer Ingelheim; (5) Valeant Pharma</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Novartis Pharma AG</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) MeFoPa, EU, 241791, PI, 2010-2013; (2) ERA-Net Neuron, BMBF, 01EW0908, PI, 2009-2012; (3) MultiSyn, EU, PI 2014 - 2018 (4) Courage-PD, BMBF Joint programming, 2013 - 2017</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) DZNE, Helmholtz Association, PI, 2009 ff</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Michael J Fox Foundation</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Hardy</surname><given-names>John</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>Consulting for Eisai and Lilly on Alzheimer's and Parkinson's diseases</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Tison</surname><given-names>François</given-names></name><degrees>MD, PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>(1)Novartis, (2)Boehringer-Ingelheim, (3) GlaxoSmithKline, (4) ABBOTT, (5) UCB</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>(1) Lundbeck, (2) Novartis, (3) UCB, (4) TEVA</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>(1) Addex pharma</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>(1) Novartis</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>(1) French Ministry of Health PHRC 2011, PI</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>(1) University Hospital Bordeaux</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>(1) Michael J. Fox Foundation</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><name><surname>Singleton</surname><given-names>Andrew</given-names></name><degrees>PhD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>1) 23andMe, travel payment</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>No financial compensation, but serve on: Annals of Neurology Lancet Neurology Neurogenetics Neurodegenerative Diseases Brain Journal of Parkinson's Disease</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>Patent pending for panel of markers to diagnose stroke</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>NIH Intramural funding Department of Defense, W81XWH-09-2-0128, PI, 2009-2011</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Brice</surname><given-names>Alexis</given-names></name><degrees>MD</degrees><author-comment content-type="disclosure"><p><list list-type="order"><title>Scientific Advisory Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Gifts:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Funding for Travel or Speaker Honoraria:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Editorial Boards:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Patents:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Publishing Royalties:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Employment, Commercial Entity:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Consultancies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Speakers' Bureaus:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Other Activities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Clinical Procedures or Imaging Studies:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Commercial Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Government Entities:</title><list-item><p>Support from the French program “Investissements d'avenir”</p></list-item></list></p><p><list list-type="order"><title>Research Support, Academic Entities:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Research Support, Foundations and Societies:</title><list-item><p>Grant from France Parkinson Association</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options/Board of Directors Compensation:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>License Fee Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Royalty Payments, Technology or Inventions:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Research Sponsor:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Stock/Stock Options, Medical Equipment & Materials:</title><list-item><p>NONE</p></list-item></list></p><p><list list-type="order"><title>Legal Proceedings:</title><list-item><p>NONE</p></list-item></list></p></author-comment></contrib><contrib contrib-type="author"><collab>For the French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC)</collab></contrib><aff>From the Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127 (S.L., F.C.-D., C.C., A.N., A.B.), Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422 (F.C.-D.); AP-HP, Hôpital de la Salpêtrière (A.B.), Department of Genetics and Cytogenetics, Paris, France; Department of Molecular Neuroscience (J.B., L.D., R.G., M.F., N.W., J.H.), UCL Institute of Neurology, London, United Kingdom; Laboratory of Neurogenetics (E.M., M.F., A.S.), National Institute on Aging, Bethesda, MD; Hertie Institute for Clinical Brain Research (P.H., T.G.), University of Tübingen and DZNE (P.H., T.G.), German Center for Neurodegenerative Diseases, Tübingen, Germany; and Institut des Maladies Neurodégénératives (F.T.), Université de Bordeaux et CHU de Bordeaux, Bordeaux, France.</aff></contrib-group><author-notes><corresp>Correspondence to Dr. Brice: <email>alexis.brice@upmc.fr</email></corresp><fn fn-type="other"><p>The French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC) coinvestigators are listed at <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000009">Neurology.org/ng</ext-link>.</p></fn></author-notes><pub-date pub-type="epub"><day>18</day><month>6</month><year>2015</year></pub-date><pub-date pub-type="collection"><month>6</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>18</day><month>6</month><year>2015</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>1</volume><issue>1</issue><elocation-id>e9</elocation-id><history><date date-type="received"><day>12</day><month>4</month><year>2015</year></date><date date-type="accepted"><day>19</day><month>5</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 American Academy of Neurology</copyright-statement><copyright-year>2015</copyright-year><copyright-holder>American Academy of Neurology</copyright-holder><license license-type="open-access"><license-p>This is an open access article distributed under the terms of the <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc-nd/4.0/">Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND)</ext-link>, which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.</license-p></license></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="NG2015000232.pdf"></self-uri><custom-meta-group><custom-meta><meta-name>OPEN-ACCESS</meta-name><meta-value>TRUE</meta-value></custom-meta></custom-meta-group></article-meta></front><body><p>Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.<sup><xref rid="R1" ref-type="bibr">1</xref></sup> Three of 4 X-linked <italic>RAB</italic> genes are specific to the brain, including <italic>RAB39B</italic>. Recently, Wilson et al.<sup><xref rid="R2" ref-type="bibr">2</xref></sup> reported that mutations in <italic>RAB39B</italic> cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ∼45-kb deletion resulting in the complete loss of <italic>RAB39B</italic> in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in <italic>RAB39B</italic>.</p><sec disp-level="2" id="s1-1"><title>Methods.</title><p>We looked for coding and splice site mutations in <italic>RAB39B</italic> (RefSeq accession number NM_171998.2) using data mining in exomes from a cohort of 1,348 unrelated patients with PD (60% men, mean age at onset 41.7 ± 11.0 years) and 530 controls (65% men, mean age at examination 45.1 ± 10.7 years), mostly of European ancestry, recruited through the International Parkinson's Disease Genomics Consortium. Whole exome was sequenced using, for the most part, Illumina TruSeq chemistry and Illumina HiSeq 2000 instrument, using 100 bp paired-end reads, according to the manufacturer's protocols. A mean of 75% of reads had coverage of at least 30-fold in both patients with PD and controls.</p><p>The human reference genome UCSC hg19 was used for sequence alignment and variant calling with the Burrows-Wheeler Aligner (<ext-link ext-link-type="uri" xlink:href="http://bio-bwa.sourceforge.net/">http://bio-bwa.sourceforge.net/</ext-link>) and the Genome Analysis Toolkit (<ext-link ext-link-type="uri" xlink:href="https://www.broadinstitute.org/gatk/">https://www.broadinstitute.org/gatk/</ext-link>). PCR duplicates were removed prior to variant calling using Picard software (<ext-link ext-link-type="uri" xlink:href="http://broadinstitute.github.io/picard/">http://broadinstitute.github.io/picard/</ext-link>). Variants were annotated with ANNOVAR software (<ext-link ext-link-type="uri" xlink:href="http://www.openbioinformatics.org/annovar/">http://www.openbioinformatics.org/annovar/</ext-link>).</p><p>Variants of interest were then verified by bidirectional Sanger sequencing using an ABI 3730 automated sequencer (Applied Biosystems, Life Technologies, Carlsbad, CA) with SeqScape v2.6 software (Applied Biosystems). Additional screening of the 2 <italic>RAB39B</italic> exons by direct sequencing was performed in a cohort of 192 unrelated French men with early-onset (EO) parkinsonism (mean age at onset 34.5 ± 7.6 years) recruited through the French network for the study of Parkinson disease genetics and 392 unrelated UK PD cases (mean age at onset 49.8 ± 14.2 years), including 48% men (mean age at onset 49.1 ± 14.4 years).</p><sec id="s1-1-1"><title>Standard protocol approvals, registrations, and patient consents.</title><p>Informed consent was obtained from all participants and the genetic studies were approved by local ethics committees.</p></sec></sec><sec disp-level="2" id="s1-2"><title>Results.</title><p>Among the 1,348 patients with PD, we identified a single man of French origin with parkinsonism who harbored a novel nonsense mutation (c.557G>A in exon 2 [p.Trp186stop] of <italic>RAB39B</italic>) that was not found in 530 unrelated control individuals of European origin, public databases (dbSNP137) (<ext-link ext-link-type="uri" xlink:href="http://www.ncbi.nlm.nih.gov/SNP/">http://www.ncbi.nlm.nih.gov/SNP/</ext-link>), or in an additional cohort of 61,486 unrelated individuals from the publicly available Exome Aggregation Consortium (<ext-link ext-link-type="uri" xlink:href="http://exac.broadinstitute.org">http://exac.broadinstitute.org</ext-link>). In addition, this patient was excluded for mutations in all other known PD genes in data from exome analyses. Subsequent screening of <italic>RAB39B</italic> in 380 additional men with EO parkinsonism failed to identify any additional variants, suggesting that <italic>RAB39B</italic> is a very rare cause of parkinsonism.</p><p>The patient with the <italic>RAB39B</italic> p.Trp186stop mutation had early disease onset (39 years) and typical parkinsonism with asymmetric rest tremor, an akineto-rigid syndrome, and a good response to levodopa. He had mild mental retardation, which required sheltered employment. No other clinical abnormalities, such as pyramidal, cerebellar, or ocular disorders, were detected. No family history of PD was reported. Brain MRI performed twice was normal.</p><p>Eight years after disease onset, the patient developed treatment-related complications, including motor fluctuations, dyskinesia, and limb dystonia, and was thoroughly evaluated in view of possible deep brain stimulation. A neuropsychological examination showed good global cognitive performance (Mattis 138/144) but difficulty concentrating and subcortico-frontal signs. A psychiatric interview revealed dysthymic disorder with impulsiveness, explaining why surgery was ultimately not performed. Apomorphine treatment was initiated at age 55. The patient died the same year.</p></sec><sec disp-level="2" id="s1-3"><title>Discussion.</title><p>Previous studies showed <italic>RAB39B</italic> to be a rare cause of X-linked ID,<sup><xref rid="R3" ref-type="bibr">3</xref><xref ref-type="bibr" rid="R4">–</xref><xref rid="R6" ref-type="bibr">6</xref></sup> which may be associated with autism spectrum disorder, epileptic seizures, and macrocephaly, but not parkinsonian signs. A recent study reported 2 families with loss-of-function mutations in <italic>RAB39B</italic>.<sup><xref rid="R2" ref-type="bibr">2</xref></sup> All affected men from the 2 kindreds presented similar clinical phenotypes with variable degrees of ID in their childhood, including developmental delay, cognitive impairment, macroencephaly, and, in some, seizures; EO parkinsonism with tremor appeared subsequently as the presenting symptom. Neuropathologic examination was consistent with α-synuclein pathology. Although we could not exclude the presence of large and complex rearrangements undetectable by the exome sequencing method, we identified an <italic>RAB39B</italic> p.Trp186stop mutation carried by a 39-year-old man with parkinsonism. The case presented here extends the phenotype caused by loss-of-function <italic>RAB39B</italic> mutations to include X-linked typical EO parkinsonism with mental retardation that is mild enough to allow autonomous living. <italic>RAB39B</italic> plays a role in vesicular trafficking pathway, possibly affecting α-synuclein pathology, as recently reported for another PD-associated gene, <italic>VPS35</italic>.<sup><xref rid="R7" ref-type="bibr">7</xref></sup></p></sec><sec sec-type="supplementary-material"><title>Supplementary Material</title><supplementary-material id="PMC_1" content-type="local-data"><caption><title>Coinvestigators</title></caption><media mimetype="text" mime-subtype="html" xlink:href="supp_1_1_e9__index.html"></media><media xlink:role="associated-file" mimetype="application" mime-subtype="msword" xlink:href="supp_1.1.e9_Coinvestigators.doc"></media></supplementary-material></sec></body><back><fn-group><fn fn-type="supplementary-material"><p>Supplemental data at <ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000009">Neurology.org/ng</ext-link></p></fn><fn fn-type="other"><p>Author contributions: Dr. Lesage: drafting the manuscript, analysis and interpretation of data, and statistical analysis. Dr. Bras: acquisition, analysis, and interpretation of data. Dr. Cormier-Dequaire: acquisition of clinical data. Mrs. Condroyer: acquisition of genetic data. Dr. Nicolas: bioinformatics analyses. Mrs. Darwent, Dr. Guerreiro, Dr. Majounie, and Mrs. Federoff: exome data acquisition and analysis. Dr. Heutink, Dr. Wood, Dr. Gasser, and Dr. Hardy: acquisition and interpretation of data. Dr. Tison: acquisition of clinical data. Dr. Singleton: supervising the exome data acquisition, analyses and interpretation, and obtaining funding. Dr. Brice: drafting/revising the manuscript, study concept or design, study supervision, and obtaining funding. All authors critically reviewed and approved the final manuscript.</p></fn><fn fn-type="financial-disclosure"><p><italic>Study funding: Supported by the France-Parkinson Association, Roger de Spoelberch Foundation, and the French program “Investissements d'avenir” (ANR-10-IAIHU-06). This work was also supported in part by the Intramural Research Program of the National Institute on Aging</italic>, <funding-source><italic>NIH</italic></funding-source>, <italic>Department of Health and Human Services; project Z01 AG000958 and by MRC Grant G1100643/1.</italic></p></fn><fn fn-type="financial-disclosure"><p><italic>Disclosure: Dr. Lesage, Dr. Bras, Dr. Cormier-Dequaire, Mrs. Condroyer, Dr. Nicolas, Mrs. Darwent, Dr. Guerreiro, Dr. Majounie, and Mrs. Federoff report no disclosures. Dr. Heutink has served on scientific advisory boards for Fondation Alzheimer France and Prices Beatrix Fonds; and holds patents for Pathogenic tau mutations, Diagnostics and therapeutics for autosomal dominant hemochromatosis, and a method for diagnosing a neurodegenerative disease. Dr. Wood reports no disclosures. Dr. Gasser has served on scientific advisory boards for joint programming in neurodegenerative disease; has received funding for travel and/or speaker honoraria from MedUpdate, Movement Disorders Society, and the Michael J. Fox Foundation; has served on the editorial boards of</italic> Parkinsonism and Related Disorders, Movement Disorders, <italic>and</italic> Journal of Neurology<italic>; holds patents for KASPP (LRRK2) Gene, its Production, and Use for the Detection and Treatment of Neurodegenerative Diseases; has served on speakers' bureaus for Novartis, Merck-Serono, Schwarz Pharma, Boehringer Ingelheim, and Valeant Pharma; and has received research support from Novartis, MeFoPa, ERA-Net Neuron, MultiSyn, Courage-PD, Hemholz Association, and the Michael J. Fox Foundation. Dr. Hardy reports no disclosures. Dr. Tison has served on scientific advisory boards for Novartis, Boehringer-Ingelheim, GlaxoSmithKline, ABBOTT, and UCB; has received funding for travel and/or speaker honoraria from Lundbeck, Novartis, UCB, and TEVA; has consulted for Addex Pharma; and has received research support from Novartis</italic>, <funding-source><italic>French Ministry of Health</italic></funding-source>, <italic>University Hospital Bordeaux, and the Michael J. Fox Foundation. Dr. Singleton has received funding for travel and/or speaker honoraria from 23andMe; has served on the editorial boards of</italic> Annals of Neurology, Lancet Neurology, Neurogenetics, Neurodegenerative Diseases, Brain, <italic>and</italic> Journal of Parkinson's Disease<italic>; has a patent pending for panel of markers to diagnose stroke; and has received research support from</italic><funding-source><italic>NIH</italic></funding-source>. <italic>Dr. Brice has received funding for travel and/or speaker honoraria from Lundbeck; and has received research support from Investissements d'avenir, Roger de Spoelberch Foundation, and France Parkinson Association. Go to</italic><ext-link ext-link-type="doi" xlink:href="10.1212/NXG.0000000000000009"><italic>Neurology.org/ng</italic></ext-link><italic>for full disclosure forms. The Article Processing Charge was paid by the Inserm DR Paris 6.</italic></p></fn></fn-group><ack><p>Acknowledgment: The authors are grateful to the patients and their families. 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