NR ATOI
AU Ladogana,A.; Poleggi,A.; Almonti,S.; Mellina,V.; Puopolo,M.; Ingrosso,L.; Equestre,M.; Pocchiari,M.
TI Creutzfeldt-Jakob disease (CJD) in Italian patients with PRNP V210I mutation: an epidemiologic and clinical evaluation.
QU International Conference - Prion 2005: Between fundamentals and society's needs - 19.10.-21.10.2005, Congress Center Düsseldorf - Poster Session: Human prions, risk of blood products, and therapy HUMAN-32
PT Konferenz-Poster
AB
The genetic form of CJD associated whit the point mutation of the prion protein (PRNP) at codon 210 (V210I) was described for the first time in Italy in 1993. From 1993 the screening for PRNP alterations in unselected subjects referred to the National Registry of CJD revealed an unexpected number of cases linked to V210I mutation of the PRNP. The large number of cases collected allowed us to define the epidemiological and clinical pattern of this genetic form of CJD.
Cases were referred to the National Registry of Creutzfeldt-Jakob disease and related disorders mainly from neurologists and pathologists or were retrospectively found by interviews with relatives and clinical record analysis. Cases were classified according to validated criteria. Blood samples were collected from patients and relatives after informed consensus. The PRNP Open Reading Frame was sequenced as described, by Ladogana et al. 2005. A life-table analysis was used to determine the cumulative penetrance of V210I mutation. We also analyzed clinical features of V210I cases and compared them with data obtained from sporadic CJD (age at onset, disease duration neurological signs), grouped according the codon 129 polymorphism of the PRNP gene.
We collected data on 86 patients. The analysis of regional distribution of these cases by place of birth revealed that they were mainly located in in three regions Campania, Apulia, and Sicily. A large number of cases presented with a negative family history. The male to female ratio in V210I CJD affected people was 0.78. The median age at onset was 58.5 (n= 86).
The main results of this study were that i) the V210I mutation does not show a complete penetrance in the Italian population ii) the V210I cases are clinically very similar to sporadic CJD cases stressing the importance the genetic analysis for their correct etiological classification.
AD A.Ladogana, A.Poleggi, S.Almonti, V.Mellina, M.Puopolo, L.Ingrosso, M.Equestre, M.Pocchiari, ISS, Italy
SP englisch
PO Deutschland