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Contributors HA, RT and JT reviewed the clinical data, EEGs and neuroradiological images, wrote portions of the manuscript and revised and edited the manuscript. MWH, HY and JWI performed immunoblotting and neuropathological studies and wrote portions of the manuscript and revised and edited the manuscript. SW was involved in the neuropathological assessment and revised the manuscript. TS was involved in the genetic analysis and revised the manuscript. FA-D, RH, HB and JR were involved in the follow-up of the patient and revised the manuscript. GGK coordinated the study, wrote significant portions of the manuscript, and revised and edited the manuscript.
Funding The NCJDRSU is funded by the Policy Research Programme of the Department of Health, and by the Scottish Government (DH121/5061). Edinburgh Brain Banks is supported by the Medical Research Council (MRC G0900580). The Austrian Reference Center for Human Prion Diseases (OERPE) is supported by the Austrian Federal Ministry of Health (BMG).
Competing interests JR and GGK report grants from Austrian Federal Ministry of Health (BMG), during the conduct of the study; GGK reports grants from EU FP7 Project Develage, outside the submitted work. JWI reports grants from Department of Health, London, grants from Medical Research Council, personal fees and non-financial support from Piramal, personal fees from Covance, personal fees and non-financial support from Springer, outside the submitted work.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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