NR AWSH
AU Rowe,D.B.; Lewis,V.; Needham,M.; Rodriguez,M.; Boyd,A.; McLean,C.; Roberts,H.; Masters,C.L.; Collins,S.J.
TI Novel prion protein gene mutation presenting with subacute PSP-like syndrome
QU Neurology 2007 Mar 13; 68(11): 868-70
PT case reports; journal article; research support, non-u.s. gov't
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.
MH Creutzfeldt-Jakob Syndrome/diagnosis/*genetics; Diagnosis, Differential; Female; Humans; Middle Aged; *Mutation; Prions/*genetics; Supranuclear Palsy, Progressive/diagnosis/*genetics; Syndrome
AD Department of Neurology, Royal North Shore Hospital, St. Leonards, Australia.
SP englisch
PO USA