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

D. B. Rowe, V. Lewis, M. Needham, M. Rodriguez, A. Boyd, C. McLean, H. Roberts, C. L. Masters, S. J. Collins*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)868-870
Number of pages3
Issue number11
Publication statusPublished - Mar 2007
Externally publishedYes


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