Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

"Conflict of Interest The authors declare that they have no conflict of interest."

"We would like to thank the patients and relatives for their participation in this study, Drs. F. Parikh, Director, A. Athalye, Sr. Res. Officer, Dept. of Assisted Reproduction and Genetics and D. Sarnath, former Head, Dept. of Molecular Medicine and Biology, Jaslok Hospital and Research Centre, Mumbai, Drs. B. Thelma (UDSC), B. Varma (TCGA) and Dr. M. Mukerji (IGBI) Delhi for the initial genetic studies in India, and Counsyl, USA, for the Universal genetic test. Dr. Sarah Wiethoff is supported by a BRT-studentship. This study was also supported by the Medical Research Council (MRC UK), The Wellcome Trust in equipment and strategic award (Synaptopathies) funding (WT093205MA and WT104033/Z/14/Z), The Brain Research Trust (BRT), The MSA Trust, the European Union Seventh Framework Programme (NeurOmics) and the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre."