RT Journal Article
SR Electronic
T1 Novel prion protein gene mutation presenting with subacute PSP-like syndrome
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 868
OP 870
DO 10.1212/01.wnl.0000256819.61531.98
VO 68
IS 11
A1 Rowe, D. B.
A1 Lewis, V.
A1 Needham, M.
A1 Rodriguez, M.
A1 Boyd, A.
A1 McLean, C.
A1 Roberts, H.
A1 Masters, C. L.
A1 Collins, S. J.
YR 2007
UL http://n.neurology.org/content/68/11/868.abstract
AB 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.