Accepted for Publication: January 10, 2011.
Author Contributions: Dr Walker had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: Velayos-Baeza, Danek, and Walker. Acquisition of data: Velayos-Baeza, Holinski-Feder, Neitzel, Bader, Critchley, Danek, and Walker. Analysis and interpretation of data: Velayos-Baeza, Holinski-Feder, Neitzel, Monaco, Danek, and Walker. Drafting of the manuscript: Velayos-Baeza and Walker. Critical revision of the manuscript for important intellectual content: Velayos-Baeza, Holinski-Feder, Neitzel, Bader, Critchley, Monaco, and Danek. Obtained funding: Velayos-Baeza, Bader, and Monaco. Administrative, technical, and material support: Velayos-Baeza, Holinski-Feder, Neitzel, Bader, Monaco, Danek, and Walker. Study supervision: Velayos-Baeza, Holinski-Feder, Monaco, and Walker.
Financial Disclosure: None reported.
Funding/Support: This work was supported by a grant from the Advocacy for Neuroacanthocytosis Patients (the Mary Kinross Charitable Trust and the Chaney family) (Drs Velayos-Baeza and Monaco) and grant 075491/Z/04 from the Wellcome Trust (Drs Velayos-Baeza and Monaco).
Additional Contributions: We thank the family for their participation in this study, especially C. S., who initiated the study and coordinated all sampling, and Dianna Ross, BS, MT (ASCP), for assistance with phlebotomy. We also thank Franca Cambi, MD, of the University of Kentucky, Lexington, for assistance in obtaining medical records. We acknowledge the role of the late David Clark, MD, University of Kentucky, in originally recognizing the disorder and providing the impetus for reporting it.