Genome wide association study of clinical duration and age at onset of sporadic CJD

Holger Hummerich; Helen Speedy; Tracy Campbell; Lee Darwent; Elizabeth Hill; Steven Collins; Christiane Stehmann; Gabor G. Kovacs; Michael D. Geschwind; Karl Frontzek; Herbert Budka; Ellen Gelpi; Adriano Aguzzi; Sven J. van der Lee; Cornelia M. van Duijn; Pawel P. Liberski; Miguel Calero; Pascual Sanchez-Juan; Elodie Bouaziz-Amar; Jean-Louis Laplanche; Stéphane Haïk; Jean-Phillipe Brandel; Angela Mammana; Sabina Capellari; Anna Poleggi; Anna Ladogana; Maurizio Pocchiari; Saima Zafar; Stephanie Booth; Gerard H. Jansen; Aušrinė Areškevičiūtė; Eva Løbner Lund; Katie Glisic; Piero Parchi; Peter Hermann; Inga Zerr; Brian S. Appleby; Jiri Safar; Pierluigi Gambetti; John Collinge; Simon Mead

doi:10.1371/journal.pone.0304528

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Open Access

Peer-reviewed

Research Article

Genome wide association study of clinical duration and age at onset of sporadic CJD

Holger Hummerich,

Roles Formal analysis

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom

https://orcid.org/0000-0001-9654-8174

⨯
Helen Speedy,

Roles Investigation

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom
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Tracy Campbell,

Roles Investigation

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom
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Lee Darwent,

Roles Investigation

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom
⨯
Elizabeth Hill,

Roles Investigation

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom

https://orcid.org/0000-0003-0031-0407

⨯
Steven Collins,

Roles Resources

Affiliation Australian National Creutzfeldt-Jakob Disease Registry, The Florey, Department of Medicine (RMH), The University of Melbourne, Victoria, Australia
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Christiane Stehmann,

Roles Resources

Affiliation Australian National Creutzfeldt-Jakob Disease Registry, The Florey, Department of Medicine (RMH), The University of Melbourne, Victoria, Australia

https://orcid.org/0000-0001-8282-9151

⨯
Gabor G. Kovacs,

Roles Resources

Affiliations Department of Laboratory Medicine and Pathobiology and Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, Ontario, Toronto, Canada, Laboratory Medicine Program & Krembil Brain Institute, University Health Network, Toronto, Ontario, Canada, Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), Vienna, Austria
⨯
Michael D. Geschwind,

Roles Resources

Affiliation UCSF Memory and Aging Center, Department of Neurology, University of California, San Francisco, California, United States of America
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Karl Frontzek,

Roles Resources

Affiliation Institute of Neuropathology, University of Zürich, Zürich, Switzerland
⨯
Herbert Budka,

Roles Resources

Affiliation Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), Vienna, Austria
⨯
Ellen Gelpi,

Roles Resources

Affiliation Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna and Austrian Reference Center for Human Prion Diseases (ÖRPE), Vienna, Austria

https://orcid.org/0000-0003-2948-4187

⨯
Adriano Aguzzi,

Roles Resources

Affiliation Institute of Neuropathology, University of Zürich, Zürich, Switzerland
⨯
Sven J. van der Lee,

Roles Resources

Affiliations Section Genomics of Neurodegenerative Diseases and Aging, Department of Clinical Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands, Delft Bioinformatics Lab, Delft University of Technology, Delft, The Netherlands, Amsterdam Neuroscience, Neurodegeneration, Amsterdam, The Netherlands

https://orcid.org/0000-0003-1606-8643

⨯
Cornelia M. van Duijn,

Roles Resources

Affiliations Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom, Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands

https://orcid.org/0000-0002-2374-9204

⨯
Pawel P. Liberski,

Roles Resources

Affiliation Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland
⨯
Miguel Calero,

Roles Resources

Affiliation Chronic Disease Programme (UFIEC-CROSADIS) and Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain
⨯
Pascual Sanchez-Juan,

Roles Resources

Affiliation Alzheimer’s Centre Reina Sofia-CIEN Foundation-ISCIII, Research Platforms, Madrid, Spain
⨯
Elodie Bouaziz-Amar,

Roles Resources

Affiliation Department of Biochemistry and Molecular Biology, Lariboisière Hospital, GHU AP-HP Nord, University of Paris Cité, Paris, France
⨯
Jean-Louis Laplanche,

Roles Resources

Affiliation Department of Biochemistry and Molecular Biology, Lariboisière Hospital, GHU AP-HP Nord, University of Paris Cité, Paris, France
⨯
Stéphane Haïk,

Roles Resources

Affiliations Paris Brain Institute (Institut du Cerveau, ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France, Assistance Publique-Hôpitaux de Paris (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
⨯
Jean-Phillipe Brandel,

Roles Resources

Affiliations Paris Brain Institute (Institut du Cerveau, ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, France, Assistance Publique-Hôpitaux de Paris (AP-HP), Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
⨯
Angela Mammana,

Roles Resources

Affiliation IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
⨯
Sabina Capellari,

Roles Resources

Affiliations IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
⨯
Anna Poleggi,

Roles Resources

Affiliation Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy
⨯
Anna Ladogana,

Roles Resources

Affiliation Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy
⨯
Maurizio Pocchiari,

Roles Resources

Affiliation Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy

https://orcid.org/0000-0002-7269-2486

⨯
Saima Zafar,

Roles Resources

Affiliations Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, Göttingen, Germany, Biomedical Engineering and Sciences Department, School of Mechanical and Manufacturing Engineering, National University of Sciences and Technology, Islamabad, Pakistan
⨯
Stephanie Booth,

Roles Resources

Affiliation Prion Disease Program, National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg, Canada

https://orcid.org/0000-0001-8108-5955

⨯
Gerard H. Jansen,

Roles Resources

Affiliation Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada
⨯
Aušrinė Areškevičiūtė,

Roles Resources

Affiliation Danish Reference Center for Prion Diseases, Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

https://orcid.org/0000-0003-0202-9942

⨯
Eva Løbner Lund,

Roles Resources

Affiliations Danish Reference Center for Prion Diseases, Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark, Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

https://orcid.org/0000-0002-6291-5893

⨯
Katie Glisic,

Roles Resources

Affiliation National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH, United States of America
⨯
Piero Parchi,

Roles Resources

Affiliations IRCCS, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

https://orcid.org/0000-0002-9444-9524

⨯
Peter Hermann,

Roles Resources

Affiliations Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, Göttingen, Germany, German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany

https://orcid.org/0000-0003-1889-8325

⨯
Inga Zerr,

Roles Resources

Affiliations Department of Neurology, Clinical Dementia Center and National Reference Center for CJD Surveillance, University Medical School, Göttingen, Germany, German Center for Neurodegenerative Diseases (DZNE), Göttingen, Germany

https://orcid.org/0000-0002-6722-2463

⨯
Brian S. Appleby,

Roles Resources

Affiliation National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH, United States of America
⨯
Jiri Safar,

Roles Resources

Affiliation Departments of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, United States of America

https://orcid.org/0000-0003-2209-0070

⨯
Pierluigi Gambetti,

Roles Resources

Affiliation Departments of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, United States of America
⨯
John Collinge,

Roles Supervision

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom
⨯
[ ... ],
Simon Mead

Roles Supervision

* E-mail: s.mead@prion.ucl.ac.uk

Affiliation MRC Prion Unit at University College London (UCL), Institute of Prion Diseases, UCL, London, United Kingdom

https://orcid.org/0000-0002-4326-1468

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Genome wide association study of clinical duration and age at onset of sporadic CJD

Holger Hummerich,
Helen Speedy,
Tracy Campbell,
Lee Darwent,
Elizabeth Hill,
Steven Collins,
Christiane Stehmann,
Gabor G. Kovacs,
Michael D. Geschwind,
Karl Frontzek

Published: July 26, 2024
https://doi.org/10.1371/journal.pone.0304528

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Single nucleotide polymorphisms
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