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Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
- Source :
-
Neurology [Neurology] 2007 Mar 13; Vol. 68 (11), pp. 868-70. - Publication Year :
- 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
- Language :
- English
- ISSN :
- 1526-632X
- Volume :
- 68
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 17353478
- Full Text :
- https://doi.org/10.1212/01.wnl.0000256819.61531.98