Thursday, December 8, 2011

S. Korea confirms second case of iatrogenic Creutzfeldt-Jakob disease 48-year-old man

2011/12/08 11:08 KST

S. Korea confirms second case of Creutzfeldt-Jakob disease

SEOUL, Dec. 8 (Yonhap) -- South Korea's health authorities on Thursday confirmed the country's second case of Creutzfeldt-Jakob disease (CJD), a degenerative neurological disorder.

A 48-year-old man was diagnosed with iatrogenic CJD (iCJD) on Wednesday, according to the Center for Disease Control. The person's identity was withheld for privacy reasons.

The report of the country's second-ever iCJD case comes after a 54-year-old woman was found last month to have died from the same disease that is often transmitted by the use of defective prion proteins found in surgical tissue graft products.

The woman had received brain surgery using Lyodura, a tissue graft product, some 23 years ago. The KCDC said the man in the latest case had also received Lyodura during brain surgery in 1988.

This form of CJD has an incubation period of more than 20 years but once symptoms occur, death usually takes place within a year.

CJD is the most common of so-called human prion diseases with one person in every 1 million diagnosed each year worldwide. It is an invariably fatal illness with death occurring after the onset of dementia, hallucinations, coordination dysfunction and seizures.

The animal form of the disease is called bovine spongiform encephalopathy (BSE) which is commonly called mad cow disease. BSE also leaves holes in the brain that resemble a sponge.



Prediction for Potential Risk Factors Through the Association Study Between Epidemiological Data and SNPs of Prion Protein Gene in the Korean Population and Suspected CJD Patients

Suyeon Kim,† Sol Moe Lee, Jae Wook Hyeon, Bo-Yeong Choi, Chi-Kyeong Kim, Jun Sun Park and Young Ran Ju

National Institute of Health, Korea CDC; Cheongwongun, Chungcheongbukdo, Korea;†Presenting author; Email:

Cases of the suspected CJD patients and reports of probable CJD have been increased due to a social uneasiness for import permission of beef from western countries reported BSE outbreak since 2008 in Korea CDC. It has been hard to definite diagnosis them due to Korean funeral culture though reports of probable sporadic CJD and genetic CJD have been increased in Korea. First of all, we need to clear the characteristics of PRNP gene in Korean population and to analyze the association between the endemic environmental factors and SNPs of the gene to predict the underlying cause.

We sequenced up to 5kb of the genomic region including the promoter region, exon I and exon II to analyze the correlation between SNPs of 185 suspected patients and diagnostic factors, and between SNPs of PRNP gene of 296 normal population and 60 epidemiologic factors like medical and familial history and diet. General statistical analyses were carried out by using SPSS statistic 18 (SPSS Inc., NY). Their significance levels were determined by the chi-square test (Fisher’s exact test).

We identified 19 SNPs in normal group and 15 SNPs gene in suspected patients’ group in their promoter and exon II regions. Our statistic analyses demonstrated that between rs1799990 (+385A>G; 129MV), rs28933385 (+598A>G; 200EK) and patient factors in suspected patients’ group showed significantly. In normal population group, between rs2756271 (-14605A>G), rs73612131 (-13537A>T), -14409 (C>T), rs1800014 (+655A>G; 219EK), +695(T>G; 232MR) and +591 (C>T; 197NN) SNPs and several demographic and dietary factors like an intake frequency of beef or ham were significantly associated.

In this study, we could predict the potential risk factors through the association study between SNPs of PRNP gene and several epidemiological factors. Especially, significance level of some dietary habits might show higher than other factors. However, we cannot entirely decide them risk factors of genetic markers in prion disease without identification of environmental or other causes of definite CJD patients though we found de novo SNP and significant result of PRNP. We expect to elucidate clearly their association through the combination of our results with other clinical information including additional clues.

PRION 2011

Wednesday, November 30, 2011

First iCJD Death Confirmed in Korea