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Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.

Identifieur interne : 000005 ( PubMed/Corpus ); précédent : 000004; suivant : 000006

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.

Auteurs : Mike. Nalls ; Cory. Mclean ; Jacqueline Rick ; Shirley Eberly ; Samantha. Hutten ; Katrina Gwinn ; Margaret Sutherland ; Maria Martinez ; Peter Heutink ; Nigel. Williams ; John Hardy ; Thomas Gasser ; Alexis Brice ; T Price ; Aude Nicolas ; Margaux. Keller ; Cliona Molony ; J Gibbs ; Alice Chen ; Eunran Suh ; Christopher Letson ; Massimo. Fiandaca ; Mark Mapstone ; Howard. Federoff ; Alastair. Noyce ; Huw Morris ; Vivianna. Van ; Daniel Weintraub ; Cyrus Zabetian ; Dena. Hernandez ; Suzanne Lesage ; Meghan Mullins ; Emily Conley ; Carrie. Northover ; Mark Frasier ; Ken Marek ; Aaron. Day ; David. Stone ; John. Ioannidis ; Andrew. Singleton

Source :

RBID : pubmed:26271532

English descriptors

Abstract

Accurate diagnosis and early detection of complex diseases, such as Parkinson's disease, has the potential to be of great benefit for researchers and clinical practice. We aimed to create a non-invasive, accurate classification model for the diagnosis of Parkinson's disease, which could serve as a basis for future disease prediction studies in longitudinal cohorts.

DOI: 10.1016/S1474-4422(15)00178-7
PubMed: 26271532

Links to Exploration step

pubmed:26271532

Le document en format XML

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<name sortKey="Eberly, Shirley" sort="Eberly, Shirley" uniqKey="Eberly S" first="Shirley" last="Eberly">Shirley Eberly</name>
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<name sortKey="Hutten, Samantha J" sort="Hutten, Samantha J" uniqKey="Hutten S" first="Samantha" last="Hutten">Samantha. Hutten</name>
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<nlm:affiliation>The Michael J Fox Foundation for Parkinson's Research, New York, NY 10018, USA.</nlm:affiliation>
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<name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
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<name sortKey="Sutherland, Margaret" sort="Sutherland, Margaret" uniqKey="Sutherland M" first="Margaret" last="Sutherland">Margaret Sutherland</name>
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<name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name>
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<name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
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<name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel" last="Williams">Nigel. Williams</name>
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<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
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<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<name sortKey="Price, T Ryan" sort="Price, T Ryan" uniqKey="Price T" first="T" last="Price">T Price</name>
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<name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
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<name sortKey="Keller, Margaux F" sort="Keller, Margaux F" uniqKey="Keller M" first="Margaux" last="Keller">Margaux. Keller</name>
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<name sortKey="Molony, Cliona" sort="Molony, Cliona" uniqKey="Molony C" first="Cliona" last="Molony">Cliona Molony</name>
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<name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J" last="Gibbs">J Gibbs</name>
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<name sortKey="Chen Plotkin, Alice" sort="Chen Plotkin, Alice" uniqKey="Chen Plotkin A" first="Alice" last="Chen">Alice Chen</name>
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<name sortKey="Suh, Eunran" sort="Suh, Eunran" uniqKey="Suh E" first="Eunran" last="Suh">Eunran Suh</name>
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<name sortKey="Letson, Christopher" sort="Letson, Christopher" uniqKey="Letson C" first="Christopher" last="Letson">Christopher Letson</name>
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<name sortKey="Mapstone, Mark" sort="Mapstone, Mark" uniqKey="Mapstone M" first="Mark" last="Mapstone">Mark Mapstone</name>
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<name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna" last="Van">Vivianna. Van</name>
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<name sortKey="Weintraub, Daniel" sort="Weintraub, Daniel" uniqKey="Weintraub D" first="Daniel" last="Weintraub">Daniel Weintraub</name>
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<nlm:affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
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<name sortKey="Zabetian, Cyrus" sort="Zabetian, Cyrus" uniqKey="Zabetian C" first="Cyrus" last="Zabetian">Cyrus Zabetian</name>
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<nlm:affiliation>Department of Neurology, Division of Neurogenetics, VA Puget Sound Health Care System, Seattle, WA, USA.</nlm:affiliation>
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<name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena. Hernandez</name>
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<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
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<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
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<nlm:affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; INSERM, U 1127, and CNRS, UMR 7225, Institut du Cerveau et de la Moelle Epinière, Paris, France; AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.</nlm:affiliation>
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<name sortKey="Mullins, Meghan" sort="Mullins, Meghan" uniqKey="Mullins M" first="Meghan" last="Mullins">Meghan Mullins</name>
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<nlm:affiliation>23andMe, Mountain View, CA, USA.</nlm:affiliation>
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<name sortKey="Conley, Emily Drabant" sort="Conley, Emily Drabant" uniqKey="Conley E" first="Emily" last="Conley">Emily Conley</name>
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<name sortKey="Northover, Carrie A M" sort="Northover, Carrie A M" uniqKey="Northover C" first="Carrie" last="Northover">Carrie. Northover</name>
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<nlm:affiliation>23andMe, Mountain View, CA, USA.</nlm:affiliation>
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<name sortKey="Frasier, Mark" sort="Frasier, Mark" uniqKey="Frasier M" first="Mark" last="Frasier">Mark Frasier</name>
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<nlm:affiliation>The Michael J Fox Foundation for Parkinson's Research, New York, NY 10018, USA.</nlm:affiliation>
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<name sortKey="Marek, Ken" sort="Marek, Ken" uniqKey="Marek K" first="Ken" last="Marek">Ken Marek</name>
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<nlm:affiliation>Institute for Neurodegenerative Disorders, New Haven, CT, USA.</nlm:affiliation>
</affiliation>
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<name sortKey="Day Williams, Aaron G" sort="Day Williams, Aaron G" uniqKey="Day Williams A" first="Aaron" last="Day">Aaron. Day</name>
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<nlm:affiliation>Precision Medicine, Biogen, Cambridge, MA, USA.</nlm:affiliation>
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<name sortKey="Stone, David J" sort="Stone, David J" uniqKey="Stone D" first="David" last="Stone">David. Stone</name>
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<nlm:affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John" last="Ioannidis">John. Ioannidis</name>
<affiliation>
<nlm:affiliation>Meta-Research Innovation Center at Stanford (METRICS), Stanford University, Stanford, CA, USA; Department of Medicine, Stanford Prevention Research Center, Stanford, CA, USA; Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, USA; Department of Statistics, Stanford University School of Humanities and Sciences, Stanford, CA, USA.</nlm:affiliation>
</affiliation>
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<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew. Singleton</name>
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<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: singleta@mail.nih.gov.</nlm:affiliation>
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<title xml:lang="en">Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.</title>
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<name sortKey="Nalls, Mike A" sort="Nalls, Mike A" uniqKey="Nalls M" first="Mike" last="Nalls">Mike. Nalls</name>
<affiliation>
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
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<name sortKey="Mclean, Cory Y" sort="Mclean, Cory Y" uniqKey="Mclean C" first="Cory" last="Mclean">Cory. Mclean</name>
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<nlm:affiliation>23andMe, Mountain View, CA, USA.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Rick, Jacqueline" sort="Rick, Jacqueline" uniqKey="Rick J" first="Jacqueline" last="Rick">Jacqueline Rick</name>
<affiliation>
<nlm:affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Eberly, Shirley" sort="Eberly, Shirley" uniqKey="Eberly S" first="Shirley" last="Eberly">Shirley Eberly</name>
<affiliation>
<nlm:affiliation>Deptartment of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, NY, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Hutten, Samantha J" sort="Hutten, Samantha J" uniqKey="Hutten S" first="Samantha" last="Hutten">Samantha. Hutten</name>
<affiliation>
<nlm:affiliation>The Michael J Fox Foundation for Parkinson's Research, New York, NY 10018, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gwinn, Katrina" sort="Gwinn, Katrina" uniqKey="Gwinn K" first="Katrina" last="Gwinn">Katrina Gwinn</name>
<affiliation>
<nlm:affiliation>National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Sutherland, Margaret" sort="Sutherland, Margaret" uniqKey="Sutherland M" first="Margaret" last="Sutherland">Margaret Sutherland</name>
<affiliation>
<nlm:affiliation>National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name>
<affiliation>
<nlm:affiliation>INSERM, UMR 1043, Centre de Physiopathologie de Toulouse-Purpan, Toulouse, France; Paul Sabatier University, Toulouse, France.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name>
<affiliation>
<nlm:affiliation>Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases, Tübingen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Williams, Nigel M" sort="Williams, Nigel M" uniqKey="Williams N" first="Nigel" last="Williams">Nigel. Williams</name>
<affiliation>
<nlm:affiliation>Institute of Psychological Medicine and Clinical Neurosciences, MRCCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation>
<nlm:affiliation>Reta Lila Weston Institute, University College London Institute of Neurology, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation>
<nlm:affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation>
<nlm:affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; INSERM, U 1127, and CNRS, UMR 7225, Institut du Cerveau et de la Moelle Epinière, Paris, France; AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Price, T Ryan" sort="Price, T Ryan" uniqKey="Price T" first="T" last="Price">T Price</name>
<affiliation>
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Nicolas, Aude" sort="Nicolas, Aude" uniqKey="Nicolas A" first="Aude" last="Nicolas">Aude Nicolas</name>
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<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Keller, Margaux F" sort="Keller, Margaux F" uniqKey="Keller M" first="Margaux" last="Keller">Margaux. Keller</name>
<affiliation>
<nlm:affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Molony, Cliona" sort="Molony, Cliona" uniqKey="Molony C" first="Cliona" last="Molony">Cliona Molony</name>
<affiliation>
<nlm:affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J" last="Gibbs">J Gibbs</name>
<affiliation>
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Chen Plotkin, Alice" sort="Chen Plotkin, Alice" uniqKey="Chen Plotkin A" first="Alice" last="Chen">Alice Chen</name>
<affiliation>
<nlm:affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Suh, Eunran" sort="Suh, Eunran" uniqKey="Suh E" first="Eunran" last="Suh">Eunran Suh</name>
<affiliation>
<nlm:affiliation>Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Letson, Christopher" sort="Letson, Christopher" uniqKey="Letson C" first="Christopher" last="Letson">Christopher Letson</name>
<affiliation>
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Fiandaca, Massimo S" sort="Fiandaca, Massimo S" uniqKey="Fiandaca M" first="Massimo" last="Fiandaca">Massimo. Fiandaca</name>
<affiliation>
<nlm:affiliation>Department of Neurology, Georgetown University Medical Center, Washington, DC, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Mapstone, Mark" sort="Mapstone, Mark" uniqKey="Mapstone M" first="Mark" last="Mapstone">Mark Mapstone</name>
<affiliation>
<nlm:affiliation>Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Federoff, Howard J" sort="Federoff, Howard J" uniqKey="Federoff H" first="Howard" last="Federoff">Howard. Federoff</name>
<affiliation>
<nlm:affiliation>Department of Neurology, Georgetown University Medical Center, Washington, DC, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Noyce, Alastair J" sort="Noyce, Alastair J" uniqKey="Noyce A" first="Alastair" last="Noyce">Alastair. Noyce</name>
<affiliation>
<nlm:affiliation>Reta Lila Weston Institute, University College London Institute of Neurology, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Morris, Huw" sort="Morris, Huw" uniqKey="Morris H" first="Huw" last="Morris">Huw Morris</name>
<affiliation>
<nlm:affiliation>Reta Lila Weston Institute, University College London Institute of Neurology, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Van Deerlin, Vivianna M" sort="Van Deerlin, Vivianna M" uniqKey="Van Deerlin V" first="Vivianna" last="Van">Vivianna. Van</name>
<affiliation>
<nlm:affiliation>Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Weintraub, Daniel" sort="Weintraub, Daniel" uniqKey="Weintraub D" first="Daniel" last="Weintraub">Daniel Weintraub</name>
<affiliation>
<nlm:affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Zabetian, Cyrus" sort="Zabetian, Cyrus" uniqKey="Zabetian C" first="Cyrus" last="Zabetian">Cyrus Zabetian</name>
<affiliation>
<nlm:affiliation>Department of Neurology, Division of Neurogenetics, VA Puget Sound Health Care System, Seattle, WA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Hernandez, Dena G" sort="Hernandez, Dena G" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena. Hernandez</name>
<affiliation>
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation>
<nlm:affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; INSERM, U 1127, and CNRS, UMR 7225, Institut du Cerveau et de la Moelle Epinière, Paris, France; AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Mullins, Meghan" sort="Mullins, Meghan" uniqKey="Mullins M" first="Meghan" last="Mullins">Meghan Mullins</name>
<affiliation>
<nlm:affiliation>23andMe, Mountain View, CA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Conley, Emily Drabant" sort="Conley, Emily Drabant" uniqKey="Conley E" first="Emily" last="Conley">Emily Conley</name>
<affiliation>
<nlm:affiliation>23andMe, Mountain View, CA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Northover, Carrie A M" sort="Northover, Carrie A M" uniqKey="Northover C" first="Carrie" last="Northover">Carrie. Northover</name>
<affiliation>
<nlm:affiliation>23andMe, Mountain View, CA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Frasier, Mark" sort="Frasier, Mark" uniqKey="Frasier M" first="Mark" last="Frasier">Mark Frasier</name>
<affiliation>
<nlm:affiliation>The Michael J Fox Foundation for Parkinson's Research, New York, NY 10018, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Marek, Ken" sort="Marek, Ken" uniqKey="Marek K" first="Ken" last="Marek">Ken Marek</name>
<affiliation>
<nlm:affiliation>Institute for Neurodegenerative Disorders, New Haven, CT, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Day Williams, Aaron G" sort="Day Williams, Aaron G" uniqKey="Day Williams A" first="Aaron" last="Day">Aaron. Day</name>
<affiliation>
<nlm:affiliation>Precision Medicine, Biogen, Cambridge, MA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Stone, David J" sort="Stone, David J" uniqKey="Stone D" first="David" last="Stone">David. Stone</name>
<affiliation>
<nlm:affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Ioannidis, John P A" sort="Ioannidis, John P A" uniqKey="Ioannidis J" first="John" last="Ioannidis">John. Ioannidis</name>
<affiliation>
<nlm:affiliation>Meta-Research Innovation Center at Stanford (METRICS), Stanford University, Stanford, CA, USA; Department of Medicine, Stanford Prevention Research Center, Stanford, CA, USA; Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, USA; Department of Statistics, Stanford University School of Humanities and Sciences, Stanford, CA, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew. Singleton</name>
<affiliation>
<nlm:affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: singleta@mail.nih.gov.</nlm:affiliation>
</affiliation>
</author>
</analytic>
<series>
<title level="j">The Lancet. Neurology</title>
<idno type="e-ISSN">1474-4465</idno>
<imprint>
<date when="2015" type="published">2015</date>
</imprint>
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<keywords scheme="KwdEn" xml:lang="en">
<term>Aged</term>
<term>Cohort Studies</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Models, Statistical</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Prodromal Symptoms</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en">
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Aged</term>
<term>Cohort Studies</term>
<term>Disease Progression</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Models, Statistical</term>
<term>Prodromal Symptoms</term>
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<front>
<div type="abstract" xml:lang="en">Accurate diagnosis and early detection of complex diseases, such as Parkinson's disease, has the potential to be of great benefit for researchers and clinical practice. We aimed to create a non-invasive, accurate classification model for the diagnosis of Parkinson's disease, which could serve as a basis for future disease prediction studies in longitudinal cohorts.</div>
</front>
</TEI>
<pubmed>
<MedlineCitation Owner="NLM" Status="MEDLINE">
<PMID Version="1">26271532</PMID>
<DateCreated>
<Year>2015</Year>
<Month>09</Month>
<Day>17</Day>
</DateCreated>
<DateCompleted>
<Year>2015</Year>
<Month>12</Month>
<Day>22</Day>
</DateCompleted>
<DateRevised>
<Year>2016</Year>
<Month>01</Month>
<Day>05</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1474-4465</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>14</Volume>
<Issue>10</Issue>
<PubDate>
<Year>2015</Year>
<Month>Oct</Month>
</PubDate>
</JournalIssue>
<Title>The Lancet. Neurology</Title>
<ISOAbbreviation>Lancet Neurol</ISOAbbreviation>
</Journal>
<ArticleTitle>Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.</ArticleTitle>
<Pagination>
<MedlinePgn>1002-9</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/S1474-4422(15)00178-7</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S1474-4422(15)00178-7</ELocationID>
<Abstract>
<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Accurate diagnosis and early detection of complex diseases, such as Parkinson's disease, has the potential to be of great benefit for researchers and clinical practice. We aimed to create a non-invasive, accurate classification model for the diagnosis of Parkinson's disease, which could serve as a basis for future disease prediction studies in longitudinal cohorts.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We developed a model for disease classification using data from the Parkinson's Progression Marker Initiative (PPMI) study for 367 patients with Parkinson's disease and phenotypically typical imaging data and 165 controls without neurological disease. Olfactory function, genetic risk, family history of Parkinson's disease, age, and gender were algorithmically selected by stepwise logistic regression as significant contributors to our classifying model. We then tested the model with data from 825 patients with Parkinson's disease and 261 controls from five independent cohorts with varying recruitment strategies and designs: the Parkinson's Disease Biomarkers Program (PDBP), the Parkinson's Associated Risk Study (PARS), 23andMe, the Longitudinal and Biomarker Study in PD (LABS-PD), and the Morris K Udall Parkinson's Disease Research Center of Excellence cohort (Penn-Udall). Additionally, we used our model to investigate patients who had imaging scans without evidence of dopaminergic deficit (SWEDD).</AbstractText>
<AbstractText Label="FINDINGS" NlmCategory="RESULTS">In the population from PPMI, our initial model correctly distinguished patients with Parkinson's disease from controls at an area under the curve (AUC) of 0·923 (95% CI 0·900-0·946) with high sensitivity (0·834, 95% CI 0·711-0·883) and specificity (0·903, 95% CI 0·824-0·946) at its optimum AUC threshold (0·655). All Hosmer-Lemeshow simulations suggested that when parsed into random subgroups, the subgroup data matched that of the overall cohort. External validation showed good classification of Parkinson's disease, with AUCs of 0·894 (95% CI 0·867-0·921) in the PDBP cohort, 0·998 (0·992-1·000) in PARS, 0·955 (no 95% CI available) in 23andMe, 0·929 (0·896-0·962) in LABS-PD, and 0·939 (0·891-0·986) in the Penn-Udall cohort. Four of 17 SWEDD participants who our model classified as having Parkinson's disease converted to Parkinson's disease within 1 year, whereas only one of 38 SWEDD participants who were not classified as having Parkinson's disease underwent conversion (test of proportions, p=0·003).</AbstractText>
<AbstractText Label="INTERPRETATION" NlmCategory="CONCLUSIONS">Our model provides a potential new approach to distinguish participants with Parkinson's disease from controls. If the model can also identify individuals with prodromal or preclinical Parkinson's disease in prospective cohorts, it could facilitate identification of biomarkers and interventions.</AbstractText>
<AbstractText Label="FUNDING" NlmCategory="BACKGROUND">National Institute on Aging, National Institute of Neurological Disorders and Stroke, and the Michael J Fox Foundation.</AbstractText>
<CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Nalls</LastName>
<ForeName>Mike A</ForeName>
<Initials>MA</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>McLean</LastName>
<ForeName>Cory Y</ForeName>
<Initials>CY</Initials>
<AffiliationInfo>
<Affiliation>23andMe, Mountain View, CA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Rick</LastName>
<ForeName>Jacqueline</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Eberly</LastName>
<ForeName>Shirley</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Deptartment of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, NY, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Hutten</LastName>
<ForeName>Samantha J</ForeName>
<Initials>SJ</Initials>
<AffiliationInfo>
<Affiliation>The Michael J Fox Foundation for Parkinson's Research, New York, NY 10018, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Gwinn</LastName>
<ForeName>Katrina</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Sutherland</LastName>
<ForeName>Margaret</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Martinez</LastName>
<ForeName>Maria</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>INSERM, UMR 1043, Centre de Physiopathologie de Toulouse-Purpan, Toulouse, France; Paul Sabatier University, Toulouse, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Heutink</LastName>
<ForeName>Peter</ForeName>
<Initials>P</Initials>
<AffiliationInfo>
<Affiliation>Genome Biology of Neurodegenerative Diseases, German Center for Neurodegenerative Diseases, Tübingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Williams</LastName>
<ForeName>Nigel M</ForeName>
<Initials>NM</Initials>
<AffiliationInfo>
<Affiliation>Institute of Psychological Medicine and Clinical Neurosciences, MRCCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Hardy</LastName>
<ForeName>John</ForeName>
<Initials>J</Initials>
<AffiliationInfo>
<Affiliation>Reta Lila Weston Institute, University College London Institute of Neurology, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Gasser</LastName>
<ForeName>Thomas</ForeName>
<Initials>T</Initials>
<AffiliationInfo>
<Affiliation>Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; INSERM, U 1127, and CNRS, UMR 7225, Institut du Cerveau et de la Moelle Epinière, Paris, France; AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Price</LastName>
<ForeName>T Ryan</ForeName>
<Initials>TR</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Nicolas</LastName>
<ForeName>Aude</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Keller</LastName>
<ForeName>Margaux F</ForeName>
<Initials>MF</Initials>
<AffiliationInfo>
<Affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Molony</LastName>
<ForeName>Cliona</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Gibbs</LastName>
<ForeName>J Raphael</ForeName>
<Initials>JR</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Chen-Plotkin</LastName>
<ForeName>Alice</ForeName>
<Initials>A</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Suh</LastName>
<ForeName>Eunran</ForeName>
<Initials>E</Initials>
<AffiliationInfo>
<Affiliation>Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Letson</LastName>
<ForeName>Christopher</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Fiandaca</LastName>
<ForeName>Massimo S</ForeName>
<Initials>MS</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Georgetown University Medical Center, Washington, DC, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Mapstone</LastName>
<ForeName>Mark</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Federoff</LastName>
<ForeName>Howard J</ForeName>
<Initials>HJ</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Georgetown University Medical Center, Washington, DC, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Noyce</LastName>
<ForeName>Alastair J</ForeName>
<Initials>AJ</Initials>
<AffiliationInfo>
<Affiliation>Reta Lila Weston Institute, University College London Institute of Neurology, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Morris</LastName>
<ForeName>Huw</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Reta Lila Weston Institute, University College London Institute of Neurology, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Van Deerlin</LastName>
<ForeName>Vivianna M</ForeName>
<Initials>VM</Initials>
<AffiliationInfo>
<Affiliation>Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Weintraub</LastName>
<ForeName>Daniel</ForeName>
<Initials>D</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; Department of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Zabetian</LastName>
<ForeName>Cyrus</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Department of Neurology, Division of Neurogenetics, VA Puget Sound Health Care System, Seattle, WA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Hernandez</LastName>
<ForeName>Dena G</ForeName>
<Initials>DG</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Lesage</LastName>
<ForeName>Suzanne</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Sorbonne Université, UPMC Univ Paris 06, UM 1127, ICM, Paris, France; INSERM, U 1127, and CNRS, UMR 7225, Institut du Cerveau et de la Moelle Epinière, Paris, France; AP-HP, Hôpital de la Salpêtrière, Département de Génétique et Cytogénétique, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Mullins</LastName>
<ForeName>Meghan</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>23andMe, Mountain View, CA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Conley</LastName>
<ForeName>Emily Drabant</ForeName>
<Initials>ED</Initials>
<AffiliationInfo>
<Affiliation>23andMe, Mountain View, CA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Northover</LastName>
<ForeName>Carrie A M</ForeName>
<Initials>CA</Initials>
<AffiliationInfo>
<Affiliation>23andMe, Mountain View, CA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Frasier</LastName>
<ForeName>Mark</ForeName>
<Initials>M</Initials>
<AffiliationInfo>
<Affiliation>The Michael J Fox Foundation for Parkinson's Research, New York, NY 10018, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Marek</LastName>
<ForeName>Ken</ForeName>
<Initials>K</Initials>
<AffiliationInfo>
<Affiliation>Institute for Neurodegenerative Disorders, New Haven, CT, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Day-Williams</LastName>
<ForeName>Aaron G</ForeName>
<Initials>AG</Initials>
<AffiliationInfo>
<Affiliation>Precision Medicine, Biogen, Cambridge, MA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Stone</LastName>
<ForeName>David J</ForeName>
<Initials>DJ</Initials>
<AffiliationInfo>
<Affiliation>Genetics and Pharmacogenomics, Merck Research Laboratories, West Point, PA, USA; Merck Research Laboratories, Boston, MA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Ioannidis</LastName>
<ForeName>John P A</ForeName>
<Initials>JP</Initials>
<AffiliationInfo>
<Affiliation>Meta-Research Innovation Center at Stanford (METRICS), Stanford University, Stanford, CA, USA; Department of Medicine, Stanford Prevention Research Center, Stanford, CA, USA; Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, USA; Department of Statistics, Stanford University School of Humanities and Sciences, Stanford, CA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Singleton</LastName>
<ForeName>Andrew B</ForeName>
<Initials>AB</Initials>
<AffiliationInfo>
<Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: singleta@mail.nih.gov.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<CollectiveName>Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators</CollectiveName>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y">
<Grant>
<GrantID>F-1201</GrantID>
<Agency>Parkinson's UK</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant>
<GrantID>G0700943</GrantID>
<Agency>Medical Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant>
<GrantID>G1100643</GrantID>
<Agency>Medical Research Council</Agency>
<Country>United Kingdom</Country>
</Grant>
<Grant>
<GrantID>P50 NS053488</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>P50 NS062684</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>P50 NS062684</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>P50NS053488</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U01NS082133</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U01NS082134</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U01NS082137</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U01NS082148</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U01NS082151</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant>
<GrantID>U01NS082157</GrantID>
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