Novel prion protein gene mutation presenting with subacute PSP-like syndrome | Macquarie University ResearchOnline

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Title: Novel prion protein gene mutation presenting with subacute PSP-like syndrome
Related: Neurology, Vol. 68, Issue 11 (2007), p.868-870
DOI: 10.1212/01.wnl.0000256819.61531.98
Publisher: Lippincott Williams & Wilkins
Date: 2007
FoR/RFCD Code(s): 110300 Clinical Sciences 110900 Neurosciences
Author/Creator: Rowe, Dominic B
Author/Creator: Lewis, V
Author/Creator: Needham, M
Author/Creator: Rodriguez, M
Author/Creator: Boyd, A
Author/Creator: McLean, C
Author/Creator: Roberts, H
Author/Creator: Masters, C. L
Author/Creator: Collins, S. J
Description: 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.
Description: 3 page(s)
Subject Keyword: 110300 Clinical Sciences
Subject Keyword: 110900 Neurosciences
Resource Type: journal article
Organisation: Macquarie University. Australian School of Advanced Medicine

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