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

Rowe, D.B., Lewis, V., Needham, M., Rodriguez, M., Boyd, A., McLean, C., Roberts, H., Masters, C.L. and Collins, S.J. (2007) Novel prion protein gene mutation presenting with subacute PSP-like syndrome. Neurology, 68 (11). pp. 868-870.

Link to Published Version: http:/​/​dx.​doi.​org/​10.​1212/​01.​wnl.​00002568...
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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.

Item Type: Journal Article
Publisher: Lippincott Williams & Wilkins
Copyright: © 200 American Academy of Neurology
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