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Of the neurodegenerative disorders, prion diseases pose some unique challenges. The phenotypic spectrum is sufficiently diverse that this diagnosis will not infrequently intrude as a consideration, with the attendant risk of inadvertent disease transmission during healthcare provision adding concerns not extant in relation to most neurological diseases, especially disorders such as Alzheimer's disease. Prompt, accurate diagnosis can assist in pre-empting and thereby minimising transmission risk, while serving to avoid unhelpful investigations and treatments, and facilitate more informed prognostication. Notwithstanding the acknowledged need to continue searching for improvements in our diagnostic capacity, there has fortunately been major progress over the last 10–15 years in relation to the premortem diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD), the most common form of human prion disease. In addition to the more recent contribution of brain MRI,1 the recognition that 14-3-3 protein detection in …
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Funding The Australian National Creutzfeldt–Jakob Disease Registry is funded by the Commonwealth Department of Health and Ageing.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Commissioned; externally peer reviewed.