RT Journal Article SR Electronic T1 Novel prion protein gene mutation presenting with subacute PSP-like syndrome JF Neurology JO Neurology FD Lippincott Williams & Wilkins SP 868 OP 870 DO 10.1212/01.wnl.0000256819.61531.98 VO 68 IS 11 A1 Rowe, D. B. A1 Lewis, V. A1 Needham, M. A1 Rodriguez, M. A1 Boyd, A. A1 McLean, C. A1 Roberts, H. A1 Masters, C. L. A1 Collins, S. J. YR 2007 UL http://n.neurology.org/content/68/11/868.abstract AB 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.