Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
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.
Rowe
D B
DB
Department of Neurology, Royal North Shore Hospital, St. Leonards, Australia.
Lewis
V
V
Needham
M
M
Rodriguez
M
M
Boyd
A
A
McLean
C
C
Roberts
H
H
Masters
C L
CL
Collins
S J
SJ
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
D011328:Prions