Article
Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
Neurology - 13 Mar 2007
Rowe D B, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters C L, Collins S J
Abstract excerpt
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...
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