Novel prion protein gene mutation presenting with subacute PSP-like syndrome
DB Rowe, V Lewis, M Needham, M Rodriguez, A Boyd, C McLean, H Roberts, CL Masters, SJ Collins
NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2007
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.