Accepted for Publication: June 3, 2014.
Published Online: August 18, 2014. doi:10.1001/jamaneurol.2014.1944.
Study concept and design: Fogel, Grody, Nelson.
Acquisition, analysis, or interpretation of data: Fogel, Lee, Deignan, Strom, Kantarci, Wang, Quintero-Rivera, Vilain, Grody, Perlman, Geschwind.
Drafting of the manuscript: Fogel.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Fogel, Lee.
Obtained funding: Fogel.
Administrative, technical, or material support: Wang, Grody, Geschwind.
Study supervision: Fogel, Vilain, Grody, Nelson.
Conflict of Interest Disclosures: None reported.
Funding/Support: This work was supported by the National Institute of Mental Health (grant K08MH86297 to Dr Fogel), the National Institute for Neurological Disorders and Stroke (grant R01NS082094 to Dr Fogel), and the National Ataxia Foundation (Young Investigator Award to Dr Fogel). The research described was supported by National Institutes of Health/National Center for Advancing Translational Science UCLA Clinical and Translational Science Institute grant UL1TR000124. Dr Fogel acknowledges the support through donations to the University of California by the Rochester Ataxia Foundation.
Role of the Funder/Sponsor: The funders 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 thank Harry Vinters, MD, Denise Ng, MD, Negar Khanlou, MD, M. Anthony Verity, MD, and Perry Shieh, MD, PhD, of the University of California at Los Angeles for the images in panels D and E of Figure 1. We also thank Lloyd Baik, Beata Durcanova, Mimi Nguyen, Stephanie Pang, Patricia Stan, and Shayli Swaim of the University of California at Los Angeles for technical assistance; the UCLA Clinical Genomics Center for performing exome sequencing; and members of the UCLA Genomic Data Board for contributions to the bioinformatic analysis and interpretation of individual cases. No compensation was received from any funding sponsors for these contributions.
Correction: This article was corrected online November 26, 2014, to remove an eTable from the Supplement.