Novel prion protein gene mutation presenting with subacute PSP-like syndrome

• Published in: Neurology Vol. 68; no. 11; pp. 868 - 870
• Main Authors: ROWE, D. B, LEWIS, V, NEEDHAM, M, RODRIGUEZ, M, BOYD, A, MCLEAN, C, ROBERTS, H, MASTERS, C. L, COLLINS, S. J
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 13-03-2007
• Subjects: 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; Nervous system diseases; Mutation; Prion protein; Subacute
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/01.wnl.0000256819.61531.98

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.