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Novel prion protein gene mutation presenting with subacute PSP-like syndrome

From the Department of Neurology (D.B.R., M.N.), Royal North Shore Hospital, St. Leonards; Australian National Creutzfeldt–Jakob Disease Registry (V.L., A.B., H.R., C.L.M., S.J.C.), Department of Pathology, University of Melbourne, Parkville; Mental Health Research Institute (V.L., A.B., C.L.M., S.J.C.), Parkville; Department of Forensic Medicine (M.R.), Sydney South West Area Health Service, New South Wales; and Department of Anatomical Pathology (C.McL.), Alfred Hospital, Prahran, Australia.

Address correspondence and reprint requests to Dr Collins, Department of Pathology, Australian National Creutzfeldt–Jakob Disease Registry, University of Melbourne, Parkville, Australia 3010; e-mail: stevenjc{at}unimelb.edu.au

A 62-year-old Indonesian woman presenting with a progressive supranuclear palsy–like syndrome was confirmed post mortem as dying from a spongiform encephalopathy. Despite an illness duration of only 4 months, brain MRI, EEG, and CSF analysis for 14-3-3 proteins all failed to disclose changes typical of Creutzfeldt–Jakob disease. Neuropathologic examination revealed multicentric, prion protein–positive, amyloid plaques as typically seen in Gerstmann–Sträussler–Scheinker syndrome. Prion protein gene analysis revealed a previously unreported A133V mutation.

The Australian National Creutzfeldt–Jakob Disease Registry is funded by the Commonwealth Department of Health and Ageing. S.J.C. receives an NH&MRC Practitioner Fellowship (no. 400182), and both S.J.C. and C.L.M. are recipients of an NH&MRC Program Grant (no. 400202).

Disclosure: The authors report no conflicts of interest.

Received July 28, 2006. Accepted in final form November 20, 2006.