title: Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
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.
authors.affiliation: Department of Neurology, Royal North Shore Hospital, St. Leonards, Australia.
authors.forename: D B
authors.initials: DB
authors.lastname: Rowe
authors.forename: V
authors.initials: V
authors.lastname: Lewis
authors.forename: M
authors.initials: M
authors.lastname: Needham
authors.forename: M
authors.initials: M
authors.lastname: Rodriguez
authors.forename: A
authors.initials: A
authors.lastname: Boyd
authors.forename: C
authors.initials: C
authors.lastname: McLean
authors.forename: H
authors.initials: H
authors.lastname: Roberts
authors.forename: C L
authors.initials: CL
authors.lastname: Masters
authors.forename: S J
authors.initials: SJ
authors.lastname: Collins
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011328:Prions / Q000235:genetics*; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D011328:Prions