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10.1038/ejhg.2014.42 http://scihub22266oqcxt.onion/10.1038/ejhg.2014.42 C4091984!4091984!24713662     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Hum+Genet 2014 ; 22 (12): 1351-6 Nephropedia Template TP {{tp|p=24713662|t=2014. Predictive testing for inherited prion disease: report of 22 years experience |pdf=|usr=}}{{24713662}} gab.com Text Predictive testing for inherited prion disease: report of 22 years experience JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24713662 #FOAvip The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative disease. Predictive testing for IPD has subsequently been carried out at a single UK clinical and research centre for 22 years. We have analysed the uptake, consequences and factors influencing the decision for predictive testing over this period. In all, 104 predictive tests were done on individuals at 50% risk, compared with 135 positive diagnostic tests. Using genealogies from clinical records, we estimated that 23% of those at 50% risk have completed testing. There was no gender bias, and unsurprisingly, there was a slight excess of normal results because some patients were already partly through the risk period because of their age. An unexpectedly large number of patients developed symptoms shortly after predictive testing, suggesting that undisclosed early symptoms of disease may prompt some patients to come forward for predictive testing. Fifteen per cent of predictive tests were done >10 years after molecular diagnosis in a proband. A strong determinant of the timing of testing in these patients was a second diagnosis in the family. IPD may generate infectious prions that might be transmitted by surgical procedures; however, we found no evidence that public health information influenced decisions about predictive testing. Twit Text FOAVip Predictive testing for inherited prion disease: report of 22 years experience ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=24713662 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24713662 #FOAvip English Wikipedia <ref>{{Cite pmid|24713662}}</ref> Predictive testing for inherited prion disease: report of 22 years experience #MMPMID24713662 Owen J; Beck J; Campbell T; Adamson G; Gorham M; Thompson A; Smithson S; Rosser E; Rudge P; Collinge J; Mead S Eur J Hum Genet 2014[Dec]; 22 (12): 1351-6 PMID24713662show ga The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative disease. Predictive testing for IPD has subsequently been carried out at a single UK clinical and research centre for 22 years. We have analysed the uptake, consequences and factors influencing the decision for predictive testing over this period. In all, 104 predictive tests were done on individuals at 50% risk, compared with 135 positive diagnostic tests. Using genealogies from clinical records, we estimated that 23% of those at 50% risk have completed testing. There was no gender bias, and unsurprisingly, there was a slight excess of normal results because some patients were already partly through the risk period because of their age. An unexpectedly large number of patients developed symptoms shortly after predictive testing, suggesting that undisclosed early symptoms of disease may prompt some patients to come forward for predictive testing. Fifteen per cent of predictive tests were done >10 years after molecular diagnosis in a proband. A strong determinant of the timing of testing in these patients was a second diagnosis in the family. IPD may generate infectious prions that might be transmitted by surgical procedures; however, we found no evidence that public health information influenced decisions about predictive testing. äPredictive testing for inherited prion disease: report of 22 years exp(epmc).pdf DeepDyve Pubget Overpricing