Novel prion protein gene mutation presenting with subacute PSP-like syndrome
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...
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| Published in: | Neurology Vol. 68; no. 11; pp. 868 - 870 |
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| Main Authors: | , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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Hagerstown, MD
Lippincott Williams & Wilkins
13-03-2007
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| 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. |
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| AbstractList | 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. 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-Straussler-Scheinker syndrome. Prion protein gene analysis revealed a previously unreported A133V mutation. |
| Author | ROBERTS, H RODRIGUEZ, M LEWIS, V NEEDHAM, M MCLEAN, C COLLINS, S. J BOYD, A ROWE, D. B MASTERS, C. L |
| Author_xml | – sequence: 1 givenname: D. B surname: ROWE fullname: ROWE, D. B organization: Department of Neurology Royal North Shore Hospital, St. Leonards, Australia – sequence: 2 givenname: V surname: LEWIS fullname: LEWIS, V organization: Australian National Creutzfeldt-Jakob Disease Registry Department of Pathology, University of Melbourne, Parkville, Australia – sequence: 3 givenname: M surname: NEEDHAM fullname: NEEDHAM, M organization: Department of Neurology Royal North Shore Hospital, St. Leonards, Australia – sequence: 4 givenname: M surname: RODRIGUEZ fullname: RODRIGUEZ, M organization: Department of Forensic Medicine Sydney South West Area Health Service, New South Wales, Australia – sequence: 5 givenname: A surname: BOYD fullname: BOYD, A organization: Australian National Creutzfeldt-Jakob Disease Registry Department of Pathology, University of Melbourne, Parkville, Australia – sequence: 6 givenname: C surname: MCLEAN fullname: MCLEAN, C organization: Department of Anatomical Pathology Alfred Hospital, Prahran, Australia – sequence: 7 givenname: H surname: ROBERTS fullname: ROBERTS, H organization: Australian National Creutzfeldt-Jakob Disease Registry Department of Pathology, University of Melbourne, Parkville, Australia – sequence: 8 givenname: C. L surname: MASTERS fullname: MASTERS, C. L organization: Australian National Creutzfeldt-Jakob Disease Registry Department of Pathology, University of Melbourne, Parkville, Australia – sequence: 9 givenname: S. J surname: COLLINS fullname: COLLINS, S. J organization: Australian National Creutzfeldt-Jakob Disease Registry Department of Pathology, University of Melbourne, Parkville, Australia |
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| Cites_doi | 10.1016/S0140-6736(03)15171-9 10.1002/ana.410280420 10.1212/WNL.47.1.1 10.1002/mds.10488 10.1212/01.WNL.0000065887.14609.0E 10.1002/1531-8249(199908)46:2<224::AID-ANA12>3.0.CO;2-W 10.1001/archopht.1992.01080130070028 10.1001/jama.1992.03490170085030 10.1016/0169-328X(95)00034-P 10.1038/eye.2000.76 |
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| SubjectTerms | Biological and medical sciences Creutzfeldt-Jakob Syndrome - diagnosis Creutzfeldt-Jakob Syndrome - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diagnosis, Differential Diseases of striated muscles. Neuromuscular diseases Female Humans Medical sciences Middle Aged Mutation Neurology Prions - genetics Supranuclear Palsy, Progressive - diagnosis Supranuclear Palsy, Progressive - genetics Syndrome |
| Title | Novel prion protein gene mutation presenting with subacute PSP-like syndrome |
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