Accepted for Publication: April 14, 2014.
Published Online: July 14, 2014. doi:10.1001/jamaneurol.2014.1184.
Study concept and design: Keller, Singleton, Chiò, Traynor, Nalls.
Acquisition, analysis, or interpretation of data: Keller, Ferrucci, Tienari, Laaksovirta, Restagno, Chiò, Traynor, Nalls.
Drafting of the manuscript: Keller, Laaksovirta.
Critical revision of the manuscript for important intellectual content: Keller, Ferrucci, Singleton, Tienari, Restagno, Chiò, Traynor, Nalls.
Statistical analysis: Keller, Nalls.
Obtained funding: Singleton, Traynor.
Administrative, technical, or material support: Ferrucci, Tienari, Laaksovirta, Traynor.
Study supervision: Singleton, Chiò, Traynor, Nalls.
Conflict of Interest Disclosures: Drs Singleton, Tienari, and Traynor have a patent pending on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9orf72.
Funding/Support: This work was supported by the intramural programmes of the National Institute on Aging, the NINDS, and the National Institute of Mental Health, as well as by grants from the ALS Association and the Packard Center for ALS Research at Johns Hopkins. This work was also supported by the Intramural Research Program of the National Institute on Aging (project Z01 AG000949-02), the NINDS, Istituto Superiore di Sanita (grant 2005-10 to Dr Ferruci), PF A15 Regione Piemonte (to Dr Restagno), and the Medical Research Council.
Role of the Sponsor: The funding agencies had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Information: The collection of the Finnish data was supported by the National Institutes of Health and the National Institute on Aging, Microsoft Research, the ALS Association, Helsinki University Central Hospital, the Finnish Academy, the Sigrid Juselius Foundation, Finnish Medical Society Duodecim, and Kuopio University. The collection of the Italian samples was supported by Ministero della Salute, Ricerca Sanitaria Finalizzata 2007 (to Drs Chiò and Restagno), Fondazione Vialli e Mauro for ALS, Torino (to Dr Chiò), Regione Piemonte, Progetti Finalizzati (to Dr Restagno), the Intramural Research Program of the National Institutes of Health and the National Institute on Aging (grant Z01-AG000949-02), the NINDS, the Packard Center for ALS Research at Hopkins (to Dr Traynor), and the ALS Association (to Dr Traynor). The US samples were obtained from the NINDS Neurogenetics ALS Repository at Coriell Cell Repositories. We gratefully acknowledge support for the GENEVA (Genes and Environmental Exposures in Veterans with ALS) study from the National Institutes of Health (grant ES013244) and the ALS Association (grant 1230). The National Registry of Veterans with ALS (grant CSP 500A) and its DNA bank (grant CSP 478) were supported by the Department of Veterans Affairs Cooperative Studies Program (CSP). This study utilized the high-performance computational capabilities of the Biowulf Linux cluster at the National Institutes of Health (http://biowulf.nih.gov) and DNA panels, samples, and clinical data from the National Institute of NINDS Human Genetics Resource Center DNA and Cell Line Repository. The people who contributed samples are acknowledged in the descriptions of every panel on the repository website (http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10).
Correction: This article was corrected on July 16, 2014, for a misspelled word in the Main Outcomes and Measures section of the abstract, on August 22, 2014, for incorrect information in the caption to Figure 1 and in Tables 2 and 4, and on September 8, 2014, for typographical errors.