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Updated: Jul 16, 2026

Protein Misfolding Cyclic Amplification of Prions
Published on: November 7, 2012
Novel prion protein gene mutation presenting with subacute PSP-like syndrome
1Department of Neurology, Royal North Shore Hospital, St. Leonards, Australia.
Abstract:
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.
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