NR AVWX
AU Kovacs,T.; Beck,J.A.; Papp,M.I.; Lantos,P.L.; Aranyi,Z.; Szirmai,I.G.; Farsang,M.; Stuke,A.; Csillik,A.; Collinge,J.
TI Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene
QU Journal of Neurology, Neurosurgery and Psychiatry 2007 Mar; 78(3): 321-3
PT case reports; journal article; research support, non-u.s. gov't
AB About 15% of human prion diseases are inherited, and are associated with point or insertional mutations of the prion protein gene (PRNP). Four families with six octapeptide repeat insertions (OPRI) in the PRNP gene have been described in the literature so far. Here we report two cases in a Hungarian family with a new six OPRI (R1R2R2R3R2R3gR3R2R2R3R4) in the PRNP gene. The clinical features (progressive ataxia, dementia and anosmia), the age of onset and the duration of disease were almost identical. In addition to the cerebellar and parahippocampal pathological changes already described, we also found deposits of pathological prion protein in the olfactory system.
MH Adult; Age of Onset; Female; Humans; Hungary; Male; Pedigree; Prion Diseases/*genetics/pathology; Prions/*genetics
AD Department of Neurology, Semmelweis University, Budapest, Balassa u. 6., H-1083 Hungary. tibor@neur.sote.hu
SP englisch
PO England