Accepted for Publication: August 16, 2013.
Published Online: April 21, 2014. doi:10.1001/jamaneurol.2013.6368.
Study concept and design: Bieniek, Dickson.
Acquisition, analysis or interpretation of data: All authors.
Drafting of the manuscript: Bieniek, Petrucelli.
Critical revision of the manuscript for important intellectual content: Bieniek, Blitterswijk, Baker, Rademakers, Dickson.
Obtained funding: Blitterswijk, Petrucelli, Rademakers, Dickson.
Administrative, technical, or material support: Petrucelli, Dickson.
Study supervision: Dickson.
Conflict of Interest Disclosures: Dr Rademakers has a pending patent on the identification of the C9ORF72 repeat expansion. Dr Petrucelli has a patent for the C9RANT antibodies. No other disclosures are reported.
Funding/Support: This study was funded by the Mayo Clinic Foundation, the Milton Safenowitz Post-Doctoral Fellowship from the ALS Association (Dr Blitterswijk), the National Institutes of Health [R01 AG026251 (Dr Petrucelli), R01 NS063964-01 (Dr Petrucelli), R01 NS077402 (Dr Petrucelli), ES20395-01 (Dr Petrucelli), R21 NS84528-01J (Dr Petrucelli), R01 NS080882 (Dr Rademakers), P50-AG16574 (Drs Dickson and Rademakers), P50-NS72187 (Drs Dickson and Rademakers), P01-AG03949], and the ALS Therapy Alliance (Dr Rademakers).
Role of the Sponsors: The funding sources 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 Contributions: We are grateful to all the patients, family members, and caregivers who agreed to brain donation, without which these studies would have been impossible. We also acknowledge expert technical assistance of Linda Rousseau, Virginia Phillips, and Monica Castanedes-Casey for histology and Beth Marten for brain banking (Department of Neuroscience, Mayo Clinic, Jacksonville, Florida).