Paralysis Research Today is a free monthly online journal that collates and summarizes the latest research about Paralysis, including details on treatment, diagnosis, facial paralysis, sleep paralysis.

Novel prion protein gene mutation presenting with subacute PSP-like syndrome.

Rowe DB, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ

Department of Neurology, Royal North Shore Hospital, St. Leonards, Australia.

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.

Published 13 March 2007 in Neurology, 68(11): 868-70.
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