Accepted for Publication: September 3, 2012.
Published Online: May 6, 2013. doi:10.1001/jamaneurol.2013.698
Study concept and design: Guerreiro, Hardy, Revesz, and Houlden.
Acquisition of data: Guerreiro, Kara, Le Ber, Rohrer, Lashley, Dupuits, Gurunlian, Mochel, Warren, Hannequin, Sedel, Depienne, Golfier, Du Boisguéheneuc, Schottlaender, Fox, Beck, Mead, Rossor, Revesz, Brice, and Houlden.
Analysis and interpretation of data: Guerreiro, Kara, Le Ber, Bras, Rohrer, Taipa, Lashley, Hannequin, Depienne, Camuzat, Mead, Revesz, and Houlden.
Drafting of the manuscript: Guerreiro, Kara, Le Ber, Bras, Rohrer, Lashley, Mochel, Warren, Camuzat, Du Boisguéheneuc, Hardy, and Houlden.
Critical revision of the manuscript for important intellectual content: Guerreiro, Rohrer, Taipa, Dupuits, Gurunlian, Hannequin, Sedel, Depienne, Golfier, Schottlaender, Fox, Beck, Mead, Rossor, Hardy, Revesz, Brice, and Houlden.
Obtained funding: Rossor, Hardy, and Brice.
Administrative, technical, and material support: Kara, Taipa, Gurunlian, Warren, Hannequin, Depienne, Camuzat, Du Boisguéheneuc, Schottlaender, Beck, Mead, Hardy, and Houlden.
Study supervision: Lashley, Depienne, Hardy, Revesz, and Houlden.
Conflict of Interest Disclosures: None reported.
Funding/Support: This work was supported in part by Alzheimer’s Research UK, the Medical Research Council, the Wellcome Trust, Parkinson’s Disease Foundation USA, the Brain Research Trust, the National Organization for Rare Disorders, the Motor Neurone Disease Association, the Wellcome Trust/MRC Joint Call in Neurodegeneration award (WT089698) to the UK Parkinson’s Disease Consortium (whose members are from the Institute of Neurology, University College London; the University of Sheffield; and the MRC Protein Phosphorylation Unit, University of Dundee), the program “Investissements d’avenir” ANR-10-IAIHU-06, and an anonymous donor. Some of this work was funded/supported by the National Institute for Health Research Biomedical Research Centre at University College London Hospitals NHS Foundation Trust, the National Institute for Health Research Biomedical Research Unit in Dementia based at University College London Hospitals, University College London, and an Alzheimer’s Research UK Fellowship (Dr Guerreiro).
Disclaimer: The views expressed are those of the authors and not necessarily those of the National Health Service, National Institute for Health Research, or Department of Health.
Additional Contributions: We are grateful to France Alzheimer; Instituts Hospitalo-Universitaires; Frédérique Etcharry-Bouix, MD, PhD, and Annick Barthelaix-Pouplard, MD, PhD, CHU Angers, Angers, France; Serge Belliard, MD, PhD, CHU Rennes, Rennes, France; Claudie Schleisch, MD, Rennes; Roger Gil, MD, CHU Poitiers, Poitiers, France; Bertrand Fontaine, MD, PhD, Pitié-Salpêtrière Hospital, Paris, France; Jean-Jacques Hauw, MD, PhD, Laboratoire de neuropathologie Escourolle, Hopital de la Salpêtrière, Paris; the Centre de Ressource Biologiques, CHU Angers; and the DNA and Cell Bank, ICM, Pitié-Salpêtrière Hospital and to all referring clinicians and patients for participation in the study. We thank the MRC London Neurodegenerative Diseases Brain Bank, the Eunice Kennedy Shriver National Institute of Child Health and Human Development Brain and Tissue Bank for Developmental Disorders (Maryland Brain Bank), and the Netherlands Brain Bank for providing tissue samples. We also thank the National Heart, Lung, and Blood Institute Grand Opportunity (GO) Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010).