Journal article
Novel prion protein gene mutation presenting with subacute PSP-like syndrome
Neurology, Vol.68(11), pp.868-870
2007
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.
Details
- Title
- Novel prion protein gene mutation presenting with subacute PSP-like syndrome
- Authors/Creators
- D.B. Rowe (Author/Creator)V. Lewis (Author/Creator)M. Needham (Author/Creator)M. Rodriguez (Author/Creator)A. Boyd (Author/Creator)C. McLean (Author/Creator)H. Roberts (Author/Creator)C.L. Masters (Author/Creator)S.J. Collins (Author/Creator)
- Publication Details
- Neurology, Vol.68(11), pp.868-870
- Publisher
- Lippincott Williams & Wilkins
- Number of pages
- 3
- Identifiers
- 991005541003007891
- Copyright
- © 200 American Academy of Neurology
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.52 Neurodegenerative Diseases
- 1.52.992 Prion Pathogenesis
- Web Of Science research areas
- Clinical Neurology
- ESI research areas
- Neuroscience & Behavior