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Neurology. 2007 Mar 13;68(11):868-70.

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

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1
Department of Neurology, Royal North Shore Hospital, St. Leonards, Australia.

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.

[Indexed for MEDLINE]

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