Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
Identifieur interne : 000A59 ( Main/Exploration ); précédent : 000A58; suivant : 000A60Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
Auteurs : Jose Bras ; Rita Guerreiro ; Lee Darwent ; Laura Parkkinen [Royaume-Uni] ; Olaf Ansorge [Royaume-Uni] ; Valentina Escott-Price [Royaume-Uni] ; Dena G. Hernandez [États-Unis] ; Michael A. Nalls [États-Unis] ; Lorraine N. Clark ; Lawrence S. Honig [États-Unis] ; Karen Marder [États-Unis] ; Wiesje M. Van Der Flier ; Afina Lemstra ; Philip Scheltens ; Ekaterina Rogaeva [Canada] ; Peter St George-Hyslop [Canada, Royaume-Uni] ; Elisabet Londos [Suède] ; Henrik Zetterberg [Suède] ; Sara Ortega-Cubero [Espagne] ; Pau Pastor [Espagne] ; Tanis J. Ferman ; Neill R. Graff-Radford ; Owen A. Ross [États-Unis] ; Imelda Barber [Royaume-Uni] ; Anne Braae [Royaume-Uni] ; Kristelle Brown [Royaume-Uni] ; Kevin Morgan [Royaume-Uni] ; Walter Maetzler [Allemagne] ; Daniela Berg [Allemagne] ; Claire Troakes [Royaume-Uni] ; Safa Al-Sarraj [Royaume-Uni] ; Tammaryn Lashley ; Yaroslau Compta [Espagne] ; Tamas Revesz ; Andrew Lees ; Nigel Cairns [États-Unis] ; Glenda M. Halliday [Australie] ; David Mann [Royaume-Uni] ; Stuart Pickering-Brown [Royaume-Uni] ; Dennis W. Dickson [États-Unis] ; Andrew Singleton [États-Unis] ; John Hardy [Royaume-Uni]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2014.
English descriptors
- KwdEn :
- Alzheimer Disease (etiology), Alzheimer Disease (genetics), Alzheimer Disease (pathology), Apolipoproteins E (genetics), Case-Control Studies, Cohort Studies, Female, Genetic Association Studies, Genetic Loci, Humans, Lewy Body Disease (etiology), Lewy Body Disease (genetics), Lewy Body Disease (pathology), Lysosome-Associated Membrane Glycoproteins (genetics), Lysosomes (pathology), Male, Parkinson Disease (etiology), Parkinson Disease (genetics), Parkinson Disease (pathology), Receptors, Scavenger (genetics), Risk Factors, alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : Apolipoproteins E, Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger, alpha-Synuclein.
- etiology : Alzheimer Disease, Lewy Body Disease, Parkinson Disease.
- genetics : Alzheimer Disease, Lewy Body Disease, Parkinson Disease.
- pathology : Alzheimer Disease, Lewy Body Disease, Lysosomes, Parkinson Disease.
- Case-Control Studies, Cohort Studies, Female, Genetic Association Studies, Genetic Loci, Humans, Male, Risk Factors.
Abstract
Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the
Url:
DOI: 10.1093/hmg/ddu334
PubMed: 24973356
PubMed Central: 4222357
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic analysis implicates <italic>APOE, SNCA</italic> and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies</title><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Nuffield Department of Clinical Neurosciences</addr-line>,<institution>Oxford Parkinson's Disease Centre, University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ansorge, Olaf" sort="Ansorge, Olaf" uniqKey="Ansorge O" first="Olaf" last="Ansorge">Olaf Ansorge</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Nuffield Department of Clinical Neurosciences</addr-line>,<institution>Oxford Parkinson's Disease Centre, University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Escott Price, Valentina" sort="Escott Price, Valentina" uniqKey="Escott Price V" first="Valentina" last="Escott-Price">Valentina Escott-Price</name><affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>MRC Centre for Neuropsychiatric Genetics and Genomics</addr-line>,<institution>School of Medicine, Cardiff University</institution>,<addr-line>Cardiff</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. Hernandez</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Laboratory of Neurogenetics</addr-line>,<institution>National Institutes on Aging, NIH</institution>,<addr-line>Bethesda</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Laboratory of Neurogenetics</addr-line>,<institution>National Institutes on Aging, NIH</institution>,<addr-line>Bethesda</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><nlm:aff id="af7"><addr-line>Taub Institute for Alzheimer Disease and the Aging Brain</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="af8"><addr-line>Department of Pathology and Cell Biology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S." last="Honig">Lawrence S. Honig</name><affiliation><nlm:aff id="af7"><addr-line>Taub Institute for Alzheimer Disease and the Aging Brain</addr-line>,</nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>Department of Neurology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><nlm:aff id="af7"><addr-line>Taub Institute for Alzheimer Disease and the Aging Brain</addr-line>,</nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>Department of Neurology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Flier, Wiesje M" sort="Van Der Flier, Wiesje M" uniqKey="Van Der Flier W" first="Wiesje M." last="Van Der Flier">Wiesje M. Van Der Flier</name><affiliation><nlm:aff id="af10"><addr-line>Department of Neurology and Alzheimer Center</addr-line>,<institution>Neuroscience Campus Amsterdam, VU University Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>the Netherlands</country>,</nlm:aff><wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry></affiliation></author><author><name sortKey="Lemstra, Afina" sort="Lemstra, Afina" uniqKey="Lemstra A" first="Afina" last="Lemstra">Afina Lemstra</name><affiliation><nlm:aff id="af10"><addr-line>Department of Neurology and Alzheimer Center</addr-line>,<institution>Neuroscience Campus Amsterdam, VU University Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>the Netherlands</country>,</nlm:aff><wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry></affiliation></author><author><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name><affiliation><nlm:aff id="af10"><addr-line>Department of Neurology and Alzheimer Center</addr-line>,<institution>Neuroscience Campus Amsterdam, VU University Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>the Netherlands</country>,</nlm:aff><wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Department of Medicine, Tanz Centre for Research in Neurodegenerative Diseases</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, Ontario</addr-line>,<country>Canada</country>,</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Department of Medicine, Tanz Centre for Research in Neurodegenerative Diseases</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, Ontario</addr-line>,<country>Canada</country>,</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af12"><institution>Cambridge Institute for Medical Research, and Cambridge National Institute of Health Research Biomedical Research Unit in Dementia, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Londos, Elisabet" sort="Londos, Elisabet" uniqKey="Londos E" first="Elisabet" last="Londos">Elisabet Londos</name><affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>Clinical Memory Research Unit</addr-line>,<institution>Institute Clinical Sciences Malmö, Lund University</institution>,<country>Sweden</country>,</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Zetterberg, Henrik" sort="Zetterberg, Henrik" uniqKey="Zetterberg H" first="Henrik" last="Zetterberg">Henrik Zetterberg</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af14"><addr-line>Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry</addr-line>,<institution>Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg</institution>,<addr-line>Mölndal</addr-line>,<country>Sweden</country>,</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name><affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research</addr-line>,<institution>University of Navarra</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af16"><addr-line>Department of Neurology</addr-line>,<institution>Clínica Universidad de Navarra, University of Navarra School of Medicine</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af17"><institution>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research</addr-line>,<institution>University of Navarra</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af16"><addr-line>Department of Neurology</addr-line>,<institution>Clínica Universidad de Navarra, University of Navarra School of Medicine</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af17"><institution>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name><affiliation><nlm:aff id="af18"><addr-line>Department of Psychiatry</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af19"><addr-line>Department of Psychology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name><affiliation><nlm:aff wicri:cut=" and" id="af20"><addr-line>Department of Neurology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="1"><nlm:aff id="af21"><addr-line>Department of Neuroscience</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Barber, Imelda" sort="Barber, Imelda" uniqKey="Barber I" first="Imelda" last="Barber">Imelda Barber</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Braae, Anne" sort="Braae, Anne" uniqKey="Braae A" first="Anne" last="Braae">Anne Braae</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brown, Kristelle" sort="Brown, Kristelle" uniqKey="Brown K" first="Kristelle" last="Brown">Kristelle Brown</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Morgan, Kevin" sort="Morgan, Kevin" uniqKey="Morgan K" first="Kevin" last="Morgan">Kevin Morgan</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name><affiliation wicri:level="1"><nlm:aff id="af23"><addr-line>Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology</addr-line>,<institution>University of Tuebingen, and DZNE, German Center for Neurodegenerative Diseases</institution>,<addr-line>Tuebingen</addr-line>,<country>Germany</country>,</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation wicri:level="1"><nlm:aff id="af23"><addr-line>Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology</addr-line>,<institution>University of Tuebingen, and DZNE, German Center for Neurodegenerative Diseases</institution>,<addr-line>Tuebingen</addr-line>,<country>Germany</country>,</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Troakes, Claire" sort="Troakes, Claire" uniqKey="Troakes C" first="Claire" last="Troakes">Claire Troakes</name><affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>MRC London Neurodegenerative Diseases Brain Bank, Department of Clinical Neuroscience</addr-line>,<institution>King's College London, Institute of Psychiatry</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name><affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>MRC London Neurodegenerative Diseases Brain Bank, Department of Clinical Neuroscience</addr-line>,<institution>King's College London, Institute of Psychiatry</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lashley, Tammaryn" sort="Lashley, Tammaryn" uniqKey="Lashley T" first="Tammaryn" last="Lashley">Tammaryn Lashley</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation></author><author><name sortKey="Compta, Yaroslau" sort="Compta, Yaroslau" uniqKey="Compta Y" first="Yaroslau" last="Compta">Yaroslau Compta</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="af30"><addr-line>Parkinson's disease and Movement Disorders Unit, Neurology Service, IDIBAPS, CIBERNED, Hospital Clínic, Barcelona, Catalonia, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's disease and Movement Disorders Unit, Neurology Service, IDIBAPS, CIBERNED, Hospital Clínic, Barcelona, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation></author><author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation></author><author><name sortKey="Cairns, Nigel" sort="Cairns, Nigel" uniqKey="Cairns N" first="Nigel" last="Cairns">Nigel Cairns</name><affiliation><nlm:aff wicri:cut=" and" id="af25"><addr-line>Knight Alzheimer's Disease Research Center</addr-line></nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af26"><addr-line>Department of Neurology</addr-line>,<institution>Washington University School of Medicine</institution>,<addr-line>Saint Louis, MO</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><affiliation wicri:level="1"><nlm:aff id="af27"><institution>Neuroscience Research Australia</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af28"><addr-line>School of Medical Sciences, Faculty of Medicine</addr-line>,<institution>University of New South Wales</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af29"><addr-line>Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name><affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af29"><addr-line>Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="1"><nlm:aff id="af21"><addr-line>Department of Neuroscience</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Laboratory of Neurogenetics</addr-line>,<institution>National Institutes on Aging, NIH</institution>,<addr-line>Bethesda</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience</addr-line>,<institution>UCL Institute of Neurology</institution>,<addr-line>London WC1N 3BG</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24973356</idno><idno type="pmc">4222357</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222357</idno><idno type="RBID">PMC:4222357</idno><idno type="doi">10.1093/hmg/ddu334</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">000A02</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A02</idno><idno type="wicri:Area/Pmc/Curation">000A02</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000A02</idno><idno type="wicri:Area/Pmc/Checkpoint">000482</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000482</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">000626</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000626</idno><idno type="wicri:Area/PubMed/Curation">000626</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000626</idno><idno type="wicri:Area/PubMed/Checkpoint">000626</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000626</idno><idno type="wicri:Area/Ncbi/Merge">001805</idno><idno type="wicri:Area/Ncbi/Curation">001805</idno><idno type="wicri:Area/Ncbi/Checkpoint">001805</idno><idno type="wicri:doubleKey">0964-6906:2014:Bras J:genetic:analysis:implicates</idno><idno type="wicri:Area/Main/Merge">000A63</idno><idno type="wicri:Area/Main/Curation">000A59</idno><idno type="wicri:Area/Main/Exploration">000A59</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic analysis implicates <italic>APOE, SNCA</italic> and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies</title><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Nuffield Department of Clinical Neurosciences</addr-line>,<institution>Oxford Parkinson's Disease Centre, University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ansorge, Olaf" sort="Ansorge, Olaf" uniqKey="Ansorge O" first="Olaf" last="Ansorge">Olaf Ansorge</name><affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Nuffield Department of Clinical Neurosciences</addr-line>,<institution>Oxford Parkinson's Disease Centre, University of Oxford</institution>,<addr-line>Oxford</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Escott Price, Valentina" sort="Escott Price, Valentina" uniqKey="Escott Price V" first="Valentina" last="Escott-Price">Valentina Escott-Price</name><affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>MRC Centre for Neuropsychiatric Genetics and Genomics</addr-line>,<institution>School of Medicine, Cardiff University</institution>,<addr-line>Cardiff</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. Hernandez</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Laboratory of Neurogenetics</addr-line>,<institution>National Institutes on Aging, NIH</institution>,<addr-line>Bethesda</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nalls, Michael A" sort="Nalls, Michael A" uniqKey="Nalls M" first="Michael A." last="Nalls">Michael A. Nalls</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Laboratory of Neurogenetics</addr-line>,<institution>National Institutes on Aging, NIH</institution>,<addr-line>Bethesda</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><nlm:aff id="af7"><addr-line>Taub Institute for Alzheimer Disease and the Aging Brain</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="af8"><addr-line>Department of Pathology and Cell Biology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S." last="Honig">Lawrence S. Honig</name><affiliation><nlm:aff id="af7"><addr-line>Taub Institute for Alzheimer Disease and the Aging Brain</addr-line>,</nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>Department of Neurology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><nlm:aff id="af7"><addr-line>Taub Institute for Alzheimer Disease and the Aging Brain</addr-line>,</nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>Department of Neurology</addr-line>,<institution>Columbia University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Flier, Wiesje M" sort="Van Der Flier, Wiesje M" uniqKey="Van Der Flier W" first="Wiesje M." last="Van Der Flier">Wiesje M. Van Der Flier</name><affiliation><nlm:aff id="af10"><addr-line>Department of Neurology and Alzheimer Center</addr-line>,<institution>Neuroscience Campus Amsterdam, VU University Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>the Netherlands</country>,</nlm:aff><wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry></affiliation></author><author><name sortKey="Lemstra, Afina" sort="Lemstra, Afina" uniqKey="Lemstra A" first="Afina" last="Lemstra">Afina Lemstra</name><affiliation><nlm:aff id="af10"><addr-line>Department of Neurology and Alzheimer Center</addr-line>,<institution>Neuroscience Campus Amsterdam, VU University Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>the Netherlands</country>,</nlm:aff><wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry></affiliation></author><author><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name><affiliation><nlm:aff id="af10"><addr-line>Department of Neurology and Alzheimer Center</addr-line>,<institution>Neuroscience Campus Amsterdam, VU University Medical Center</institution>,<addr-line>Amsterdam</addr-line>,<country>the Netherlands</country>,</nlm:aff><wicri:noCountry code="nlm country">the Netherlands</wicri:noCountry></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Department of Medicine, Tanz Centre for Research in Neurodegenerative Diseases</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, Ontario</addr-line>,<country>Canada</country>,</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Department of Medicine, Tanz Centre for Research in Neurodegenerative Diseases</addr-line>,<institution>University of Toronto</institution>,<addr-line>Toronto, Ontario</addr-line>,<country>Canada</country>,</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af12"><institution>Cambridge Institute for Medical Research, and Cambridge National Institute of Health Research Biomedical Research Unit in Dementia, University of Cambridge</institution>,<addr-line>Cambridge CB2 0XY</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Londos, Elisabet" sort="Londos, Elisabet" uniqKey="Londos E" first="Elisabet" last="Londos">Elisabet Londos</name><affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>Clinical Memory Research Unit</addr-line>,<institution>Institute Clinical Sciences Malmö, Lund University</institution>,<country>Sweden</country>,</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Zetterberg, Henrik" sort="Zetterberg, Henrik" uniqKey="Zetterberg H" first="Henrik" last="Zetterberg">Henrik Zetterberg</name><affiliation><nlm:aff id="af1"><addr-line>Department of Molecular Neuroscience</addr-line>,</nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af14"><addr-line>Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry</addr-line>,<institution>Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg</institution>,<addr-line>Mölndal</addr-line>,<country>Sweden</country>,</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name><affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research</addr-line>,<institution>University of Navarra</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af16"><addr-line>Department of Neurology</addr-line>,<institution>Clínica Universidad de Navarra, University of Navarra School of Medicine</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af17"><institution>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="1"><nlm:aff id="af15"><addr-line>Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research</addr-line>,<institution>University of Navarra</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af16"><addr-line>Department of Neurology</addr-line>,<institution>Clínica Universidad de Navarra, University of Navarra School of Medicine</institution>,<addr-line>Pamplona</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af17"><institution>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name><affiliation><nlm:aff id="af18"><addr-line>Department of Psychiatry</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff id="af19"><addr-line>Department of Psychology</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name><affiliation><nlm:aff wicri:cut=" and" id="af20"><addr-line>Department of Neurology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="1"><nlm:aff id="af21"><addr-line>Department of Neuroscience</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Barber, Imelda" sort="Barber, Imelda" uniqKey="Barber I" first="Imelda" last="Barber">Imelda Barber</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Braae, Anne" sort="Braae, Anne" uniqKey="Braae A" first="Anne" last="Braae">Anne Braae</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Brown, Kristelle" sort="Brown, Kristelle" uniqKey="Brown K" first="Kristelle" last="Brown">Kristelle Brown</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Morgan, Kevin" sort="Morgan, Kevin" uniqKey="Morgan K" first="Kevin" last="Morgan">Kevin Morgan</name><affiliation wicri:level="1"><nlm:aff id="af22"><addr-line>Translation Cell Sciences - Human Genetics</addr-line>,<institution>School of Life Sciences, Queens Medical Centre, University of Nottingham</institution>,<addr-line>Nottingham</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name><affiliation wicri:level="1"><nlm:aff id="af23"><addr-line>Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology</addr-line>,<institution>University of Tuebingen, and DZNE, German Center for Neurodegenerative Diseases</institution>,<addr-line>Tuebingen</addr-line>,<country>Germany</country>,</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name><affiliation wicri:level="1"><nlm:aff id="af23"><addr-line>Hertie Institute for Clinical Brain Research, Department of Neurodegeneration, Center of Neurology</addr-line>,<institution>University of Tuebingen, and DZNE, German Center for Neurodegenerative Diseases</institution>,<addr-line>Tuebingen</addr-line>,<country>Germany</country>,</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Troakes, Claire" sort="Troakes, Claire" uniqKey="Troakes C" first="Claire" last="Troakes">Claire Troakes</name><affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>MRC London Neurodegenerative Diseases Brain Bank, Department of Clinical Neuroscience</addr-line>,<institution>King's College London, Institute of Psychiatry</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name><affiliation wicri:level="1"><nlm:aff id="af24"><addr-line>MRC London Neurodegenerative Diseases Brain Bank, Department of Clinical Neuroscience</addr-line>,<institution>King's College London, Institute of Psychiatry</institution>,<addr-line>London</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lashley, Tammaryn" sort="Lashley, Tammaryn" uniqKey="Lashley T" first="Tammaryn" last="Lashley">Tammaryn Lashley</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation></author><author><name sortKey="Compta, Yaroslau" sort="Compta, Yaroslau" uniqKey="Compta Y" first="Yaroslau" last="Compta">Yaroslau Compta</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="af30"><addr-line>Parkinson's disease and Movement Disorders Unit, Neurology Service, IDIBAPS, CIBERNED, Hospital Clínic, Barcelona, Catalonia, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's disease and Movement Disorders Unit, Neurology Service, IDIBAPS, CIBERNED, Hospital Clínic, Barcelona, Catalonia</wicri:regionArea><wicri:noRegion>Catalonia</wicri:noRegion></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation></author><author><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name><affiliation><nlm:aff wicri:cut=", and" id="af2"><addr-line>Queen Square Brain Bank, Department of Molecular Neuroscience</addr-line></nlm:aff><wicri:noCountry code="subfield">Department of Molecular Neuroscience</wicri:noCountry></affiliation></author><author><name sortKey="Cairns, Nigel" sort="Cairns, Nigel" uniqKey="Cairns N" first="Nigel" last="Cairns">Nigel Cairns</name><affiliation><nlm:aff wicri:cut=" and" id="af25"><addr-line>Knight Alzheimer's Disease Research Center</addr-line></nlm:aff></affiliation><affiliation wicri:level="1"><nlm:aff id="af26"><addr-line>Department of Neurology</addr-line>,<institution>Washington University School of Medicine</institution>,<addr-line>Saint Louis, MO</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name><affiliation wicri:level="1"><nlm:aff id="af27"><institution>Neuroscience Research Australia</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="af28"><addr-line>School of Medical Sciences, Faculty of Medicine</addr-line>,<institution>University of New South Wales</institution>,<addr-line>Sydney</addr-line>,<country>Australia</country>,</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af29"><addr-line>Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name><affiliation wicri:level="1"><nlm:aff wicri:cut=" and" id="af29"><addr-line>Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences</addr-line>,<institution>University of Manchester</institution>,<addr-line>Manchester</addr-line>,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><affiliation wicri:level="1"><nlm:aff id="af21"><addr-line>Department of Neuroscience</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Jacksonville, FL</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Laboratory of Neurogenetics</addr-line>,<institution>National Institutes on Aging, NIH</institution>,<addr-line>Bethesda</addr-line>,<country>USA</country>,</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience</addr-line>,<institution>UCL Institute of Neurology</institution>,<addr-line>London WC1N 3BG</addr-line>,<country>UK</country>,</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alzheimer Disease (etiology)</term><term>Alzheimer Disease (genetics)</term><term>Alzheimer Disease (pathology)</term><term>Apolipoproteins E (genetics)</term><term>Case-Control Studies</term><term>Cohort Studies</term><term>Female</term><term>Genetic Association Studies</term><term>Genetic Loci</term><term>Humans</term><term>Lewy Body Disease (etiology)</term><term>Lewy Body Disease (genetics)</term><term>Lewy Body Disease (pathology)</term><term>Lysosome-Associated Membrane Glycoproteins (genetics)</term><term>Lysosomes (pathology)</term><term>Male</term><term>Parkinson Disease (etiology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Receptors, Scavenger (genetics)</term><term>Risk Factors</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apolipoproteins E</term><term>Lysosome-Associated Membrane Glycoproteins</term><term>Receptors, Scavenger</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Alzheimer Disease</term><term>Lewy Body Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alzheimer Disease</term><term>Lewy Body Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Alzheimer Disease</term><term>Lewy Body Disease</term><term>Lysosomes</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term><term>Cohort Studies</term><term>Female</term><term>Genetic Association Studies</term><term>Genetic Loci</term><term>Humans</term><term>Male</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the <italic>APOE</italic> is a strong genetic risk factor for DLB, confirming previous findings, and that the <italic>SNCA</italic> and <italic>SCARB2</italic> loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in <italic>GBA</italic> is associated with DLB, which, together with the findings at the <italic>SCARB2</italic> locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Barber, R" uniqKey="Barber R">R. Barber</name></author><author><name sortKey="Panikkar, A" uniqKey="Panikkar A">A. Panikkar</name></author><author><name sortKey="Mckeith, I G" uniqKey="Mckeith I">I.G. McKeith</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lippa, C F" uniqKey="Lippa C">C.F. Lippa</name></author><author><name sortKey="Duda, J E" uniqKey="Duda J">J.E. Duda</name></author><author><name sortKey="Grossman, M" uniqKey="Grossman M">M. Grossman</name></author><author><name sortKey="Hurtig, H I" uniqKey="Hurtig H">H.I. 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Clark</name><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name><name sortKey="Lashley, Tammaryn" sort="Lashley, Tammaryn" uniqKey="Lashley T" first="Tammaryn" last="Lashley">Tammaryn Lashley</name><name sortKey="Lees, Andrew" sort="Lees, Andrew" uniqKey="Lees A" first="Andrew" last="Lees">Andrew Lees</name><name sortKey="Lemstra, Afina" sort="Lemstra, Afina" uniqKey="Lemstra A" first="Afina" last="Lemstra">Afina Lemstra</name><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><name sortKey="Scheltens, Philip" sort="Scheltens, Philip" uniqKey="Scheltens P" first="Philip" last="Scheltens">Philip Scheltens</name><name sortKey="Van Der Flier, Wiesje M" sort="Van Der Flier, Wiesje M" uniqKey="Van Der Flier W" first="Wiesje M." last="Van Der Flier">Wiesje M. Van Der Flier</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Parkkinen, Laura" sort="Parkkinen, Laura" uniqKey="Parkkinen L" first="Laura" last="Parkkinen">Laura Parkkinen</name></noRegion><name sortKey="Al Sarraj, Safa" sort="Al Sarraj, Safa" uniqKey="Al Sarraj S" first="Safa" last="Al-Sarraj">Safa Al-Sarraj</name><name sortKey="Ansorge, Olaf" sort="Ansorge, Olaf" uniqKey="Ansorge O" first="Olaf" last="Ansorge">Olaf Ansorge</name><name sortKey="Barber, Imelda" sort="Barber, Imelda" uniqKey="Barber I" first="Imelda" last="Barber">Imelda Barber</name><name sortKey="Braae, Anne" sort="Braae, Anne" uniqKey="Braae A" first="Anne" last="Braae">Anne Braae</name><name sortKey="Brown, Kristelle" sort="Brown, Kristelle" uniqKey="Brown K" first="Kristelle" last="Brown">Kristelle Brown</name><name sortKey="Escott Price, Valentina" sort="Escott Price, Valentina" uniqKey="Escott Price V" first="Valentina" last="Escott-Price">Valentina Escott-Price</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Mann, David" sort="Mann, David" uniqKey="Mann D" first="David" last="Mann">David Mann</name><name sortKey="Morgan, Kevin" sort="Morgan, Kevin" uniqKey="Morgan K" first="Kevin" last="Morgan">Kevin Morgan</name><name sortKey="Pickering Brown, Stuart" sort="Pickering Brown, Stuart" uniqKey="Pickering Brown S" first="Stuart" last="Pickering-Brown">Stuart Pickering-Brown</name><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><name sortKey="Troakes, Claire" sort="Troakes, Claire" uniqKey="Troakes C" first="Claire" last="Troakes">Claire Troakes</name></country><country name="États-Unis"><noRegion><name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena G." last="Hernandez">Dena G. 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Ross</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></country><country name="Canada"><noRegion><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name></noRegion><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name></country><country name="Suède"><noRegion><name sortKey="Londos, Elisabet" sort="Londos, Elisabet" uniqKey="Londos E" first="Elisabet" last="Londos">Elisabet Londos</name></noRegion><name sortKey="Zetterberg, Henrik" sort="Zetterberg, Henrik" uniqKey="Zetterberg H" first="Henrik" last="Zetterberg">Henrik Zetterberg</name></country><country name="Espagne"><noRegion><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name></noRegion><name sortKey="Compta, Yaroslau" sort="Compta, Yaroslau" uniqKey="Compta Y" first="Yaroslau" last="Compta">Yaroslau Compta</name><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name><name sortKey="Ortega Cubero, Sara" sort="Ortega Cubero, Sara" uniqKey="Ortega Cubero S" first="Sara" last="Ortega-Cubero">Sara Ortega-Cubero</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></country><country name="Allemagne"><noRegion><name sortKey="Maetzler, Walter" sort="Maetzler, Walter" uniqKey="Maetzler W" first="Walter" last="Maetzler">Walter Maetzler</name></noRegion><name sortKey="Berg, Daniela" sort="Berg, Daniela" uniqKey="Berg D" first="Daniela" last="Berg">Daniela Berg</name></country><country name="Australie"><noRegion><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name></noRegion><name sortKey="Halliday, Glenda M" sort="Halliday, Glenda M" uniqKey="Halliday G" first="Glenda M." last="Halliday">Glenda M. Halliday</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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