NR AXJE
AU Begue,C.; Abiusi,G.; Gertiser,M.; Rivadulla,M.; Bueri,J.; Mattiazzi,M.; Kauffman,M.; Amante,M.; Botti,O.; Cosacov,R.; Ghirardi,G.; Ferrari,J.; Gatto,E.; Canto,L.; Fernandez Santivanez,N.; Ganin,D.; D'Angelo,R.; Mamprelian,J.; Marquez Vigo,C.; Moran,D.; Salvagno,B.; Valiensi,S.; Toledo,S.; Villagra,J.; Andrade,J.; Villegas,M.; Meichtry,O.; Somoza,M.; Martinetto,H.; Pocchiari,M.; Equestre,M.; Piccardo,P.; Taratuto,A.L.
TI Creutzfeldt-Jakob Disease E200K in Argentina
QU International Conference - Prion 2007 (26.-28.9.2007) Edinburgh International Conference Centre, Edinburgh, Scotland, UK - Book of Abstracts: Epidemiology, Risk Assessment and Transmission P04.119
IA http://www.prion2007.com/pdf/Prion Book of Abstracts.pdf
PT Konferenz-Poster
AB
Creutzfeldt-Jakob disease (CJD) is mostly sporadic with a reported incidence of 11.5/million/year. About 5 to 15 % of patients have an autosomal dominant disease associated with mutations in the prion protein gene (PRNP), E200K the most common. In Chile, clusters of CJD E200K have been detected. Familial and/or genetic confirmed cases referred since 1983 to 2005 represent 14,5 % of 159 cases-ie. definite and probable CJD (23/159). Patients of Chilean origin (n=19) (ie. born in Chile or of Chilean descent), most of them from Patagonia close to Chilean border, represent 12% of CJD in Argentina (19/159). Thirteen of these patients had familial history consistent with CJD and17/19 cases had DNA available for study, so we analyzed them all for E200K mutation, even those referred as 'sporadic'. We report clinical and/or neuropathological and molecular aspects of 19 patients with E200K representing 12 % of our surveillance,17 were of Chilean origin and 2 non Chilean, one Jewish Sephardite and one in whom ethnicity of maternal side was undeterminable showing insomnia as a prominent symptom. There were 11 definite and 8 probable gCJD. Studies to determine PrP status at codon 129 and PrP immunoblot analysis were performed in 8/11 definite cases for which frozen tissue was available. Of these cases, 4 were PrP129-MM and 4 PrP129-MV; in all these patients type I PrPres was observed by immunoblotting. Seven of 8 probable cases were tested for status at PrP codon 129: 6 patients showed PrP 129 MM and 1 PrP 129 MV. Age at onset for the 19 E200K cases was: 57(mean), 37-74 yrs(range) and duration of disease: 7mo (mean), 3-13 months(range). All these cases resembled sporadic CJD, although insomnia at onset was reported in 8 cases, dysesthesias in 2 and profuse perspiration in 1. EEG with alterations characteristically seen in CJD was reported in 10/19 cases but only a few have more than one register performed. MRI, when FLAIR and DWI sequences were available showed cortical and basal ganglia high signal. Cerebellum PrP immunostaining showed synaptic and plaque-like pattern in both PrP 129 MM and PrP 129 MV definite cases.
FLENI SECYT BID 802 OC AR PID 98 027/ 1728 OC AR PID 2003 351
AD C. Begue, M. Somoza, H. Martinetto, A.L. Taratuto, Instituto de Investigaciones Neurologicas, FLENI, Referral Centre for Creutzfeldt-Jakob Disease, Argentina; G. Abiusi, Hospital Boulogne, Argentina; M. Gertiser, M. Rivadulla, Hospital Municipal Bahia Blanca, Argentina; J. Bueri, M. Mattiazzi, M. Kauffman, Hospital Ramos Mejía, Argentina; M. Amante, Hospital Castex, Argentina; O. Botti, Hospital Centenario, Argentina; R. Cosacov, Hospital Misericordia, Argentina; G. Ghirardi, Hospital Cordoba, Argentina; J. Ferrari, Hospital Castro Rendon, Argentina; E. Gatto, L. Canto, Sanatorio Mite, Argentina; N. Fernandez Santivañez, D. Ganín, Clinica Pasteur, Argentina; R. D'Angelo, Hospital Povincial, Argentina; J. Mamprelian, Hospital Militar Central, Argentina; C. Marquez Vigo, Hospital Interzonal, Argentina; D. Morán, B. Salvagno, Hospital Esquel, Argentina; S. Valiensi, Hospital Italiano, Argentina; S. Toledo, Hospital Cutral-Co, Argentina; J. Villagra, M. Villegas, Hospital Cipoletti, Argentina; J. Andrade, Sanatorio Rio Negro, Argentina; O. Meichtry, Clinica Radiologica Dr.Moguillansky, Argentina; M. Pocchiari, M. Equestre, Istituto Sanitá, Italy; P. Piccardo, Indiana University, USA
SP englisch
PO Schottland