NR AJEL
AU Panegyres,P.K.; Toufexis,K.; Kakulas,B.A.; Cervenakova,L.; Brown,P.; Ghetti,B.; Piccardo,P.; Dlouhy,S.R.
TI A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease
QU Archives of Neurology 2001 Nov; 58(11): 1899-902
PT journal article
AB BACKGROUND: Gerstmann-Sträussler-Scheinker disease is a rare form of prion disease. OBJECTIVE: To determine the prion mutation in a 51-year-old man without a family history of neurologic disease who died from Gerstmann-Sträussler-Scheinker disease. PATIENT AND METHODS: The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and eventually ataxia. Neuropathologic studies were performed, the results of which revealed abundant prion protein-immunopositive amyloid plaques in the cerebellum without spongiform degeneration. RESULTS: Genetic analysis of the prion protein gene showed a novel mutation at codon 131 that caused a valine-for-glycine substitution (G131V) and homozygosity at codon 129 (129M). Proteinase K-resistant prion protein was detected by Western blot analysis. CONCLUSIONS: This is the first mutation described in the short, antiparallel beta-sheet domain of the prion protein. This report highlights the importance of genetic analysis of patients with atypical dementia even in the absence of a family history.
MH Base Sequence; Brain/*pathology/physiology; Case Report; Gerstmann-Sträussler-Scheinker Disease/*genetics/pathology/physiopathology; Human; Immunohistochemistry; Male; Middle Age; Molecular Sequence Data; Mutation; Prions/analysis/*genetics; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.
AD Department of Neuropathology, Royal Perth Hospital, Wellington Street, Perth, Western Australia 6000. peter.panegyres@rph.health.wa.gov.au
SP englisch
PO USA