Authors

Ian R. Mackenzie, Vancouver Coastal Health and the University of British Colombia
Alexandra M. Nicholson, Mayo Clinic Jacksonville
Mohona Sarkar, St. Jude Children's Research Hospital
James Messing, St. Jude Children's Research Hospital
Maria D. Purice, St. Jude Children's Research Hospital
Cyril Pottier, Mayo Clinic Jacksonville
Kavya Annu, St. Jude Children's Research Hospital
Matt Baker, Mayo Clinic Jacksonville
Ralph B. Perkerson, Mayo Clinic Jacksonville
Aishe Kurti, Mayo Clinic Jacksonville
Billie J. Matchett, Mayo Clinic Jacksonville
Tanja Mittag, St. Jude Children's Research Hospital
Jamshid Temirov, St. Jude Children's Research Hospital
Ging-Yuek R. Hsiung, Vancouver Coastal Health and the University of British Columbia
Charles Krieger, Vancouver Coastal Health and the University of British Columbia; Simon Fraser University
Melissa E. Murray, Mayo Clinic Jacksonville
Masato Kato, University of Texas Southwestern Medical Center
John D. Fryer, Mayo Clinic Jacksonville
Leonard Petrucelli, Mayo Clinic Jacksonville
Lorne Zinman, Sunnybrook Health Sciences Centre
Sandra Weintraub, Northwestern University Feinberg School of Medicine
Marsel Mesulam, Northwestern University Feinberg School of Medicine
Julia Keith, Sunnybrook Health Sciences Centre; University of Toronto
Sasha A. Zivkovic, University of Pittsburgh School of Medicine
Veronica Hirsch-Reinshagen, Vancouver Coastal Health and the University of British Colombia
Raymond P. Roos, University of Chicago
Stephan Züchner, University of Miami Miller School of Medicine
Neill R. Graff-Radford, Mayo Clinic Jacksonville
Ronald C. Petersen, Mayo Clinic Rochester
Richard J. Caselli, Mayo Clinic Scottsdale
Zbigniew K. Wszolek, Mayo Clinic Jacksonville
Elizabeth Finger, University of Western Ontario
Carol Lippa, Thomas Jefferson University; Drexel University College of MedicineFollow
David Lacomis, University of Pittsburgh School of Medicine; University of Pittsburgh School of Medicine
Heather Stewart, Vancouver Coastal Health and the University of British Columbia
Dennis W. Dickson, Mayo Clinic Jacksonville
Hong Joo Kim, St. Jude Children's Research Hospital
Ekaterina Rogaeva, University of Toronto
Eileen Bigio, Northwestern University Feinberg School of Medicine
Kevin B. Boylan, Mayo Clinic Jacksonville
J. Paul Taylor, St. Jude Children's Research Hospital; Howard Hughes Medical Institute
Rosa Rademakers, Mayo Clinic Jacksonville

Document Type

Article

Publication Date

8-16-2017

Comments

This article has been peer reviewed. It is the authors' final version prior to publication in Neuron, Volume 95, Issue 4, August 2017, Pages 808-816.e9

The published version is available at https://doi.org/10.1016/j.neuron.2017.07.025. Copyright © Elsevier

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

PubMed ID

28817800

Language

English

Included in

Neurology Commons

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