Accepted for Publication: December 20, 2012.
Published Online: April 29, 2013. doi:10.1001/jamaneurol.2013.2311
Author Contributions:Study concept and design: Serrano-Munuera, Durr, Brice, Volpini, and Matilla-Dueñas. Acquisition of data: Serrano-Munuera, Corral-Juan, Stevanin, San Nicolás, Roig, Corral, Campos, de Jorge, Forlani, Durr, Volpini, and Matilla-Dueñas. Analysis and interpretation of data: Serrano-Munuera, Corral-Juan, Stevanin, Roig, Morcillo-Suárez, Navarro, Kulisevsky, Sánchez, Volpini, and Matilla-Dueñas. Drafting of the manuscript: Serrano-Munuera, San Nicolás, Roig, Corral, Campos, de Jorge, Navarro, Durr, Brice, Volpini, and Matilla-Dueñas. Critical revision of the manuscript for important intellectual content: Serrano-Munuera, Stevanin, Corral-Juan, Morcillo-Suárez, Navarro, Forlani, Kulisevsky, Sánchez, Volpini, and Matilla-Dueñas. Statistical analysis: Stevanin, Morcillo-Suárez, Navarro, Volpini, and Matilla-Dueñas. Obtained funding: Serrano-Munuera, Roig, Sánchez, Volpini, and Matilla-Dueñas. Administrative, technical, and material support: Serrano-Munuera, Corral-Juan, San Nicolás, Roig, Corral, Campos, de Jorge, Forlani, Kulisevsky, Volpini, and Matilla-Dueñas. Study supervision: Serrano-Munuera, Durr, Brice, Volpini, and Matilla-Dueñas.
Conflict of Interest Disclosures: Dr Matilla-Dueñas is a Miguel Servet Investigator in Neurosciences of the Spanish National Health System. In the last 3 years, he acted as a consultant for Ataxia UK and the European Commission, and he received an award from the Spanish Federation of Ataxia Associations. Dr Kulisevsky received honoraria for scientific lectures from Abbot, UCB, and Boehringer. Dr Serrano-Munuera performed this work as a part of a PhD project in the Department of Medicine at the Universitat Autonoma de Barcelona.
Funding/Support: This work was funded by the Spanish Ministry of Science and Innovation (grant BFU2008-00527/BMC to Dr Matilla-Dueñas), the Carlos III Health Institute (grant CP08/00027 to Dr Matilla-Dueñas and grant PS09/02342 to Dr Volpini), the Latin American Science and Technology Development Programme (Ciencia y Tecnologia para el Desarrollo) (RIBERMOV grant 210RT0390 to Drs Matilla-Dueñas, Sánchez, and Volpini), the European Commission (EUROSCA project LHSM-CT-2004-503304 of Drs Matilla-Dueñas and Brice), the Fundacio de la Marato de TV3 Televisio de Catalunya (grant 10073 to Drs Matilla-Dueñas, Sánchez, Serrano-Munuera, and Volpini), the Verum Foundation (Dr Brice), and the Association Connaitre les Syndromes Cerebelleux (Dr Stevanin). Dr Kulisevsky has received public research funding from Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas and research grants from Fondo de Investigaciones Sanitarias (Instituto de Salud Carlos III, Spain) and restricted research grants from Merck Serono. He acted as a consultant for the Michael J. Fox Foundation for Parkinson's Research.
Additional Contributions: We are indebted to all the patients and family members for their generous participation in this work. We are grateful to Eveli Peral, MD, Merce Martinez, MD, Purificacion Cacabelos, MD, Luisa Juan, MD, PhD, Joel Puig, BSc, MSc, Ariadna Navarro Aragall, BSc, Emeline Mundwiller, BSc, and Wassila Carpentier, PhD, for technical assistance and to Sistemas Genómicos (Spain) for whole-exome sequencing studies and bioinformatics analysis. We are indebted to the Spanish Ataxia Association, the Spanish Federation for Rare Diseases, and the patients for their continuous support and motivation. The SNP genotyping services were provided by the Spanish “Centro Nacional de Genotipado” (CEGEN-ISCIII).