Genetic prion diseases account for about 10-15% of all cases of human prion disease and are caused by mutations in the prion protein gene. Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic prion disease, which is characterized by slowly progressive cerebellar ataxia and the occurrence of cognitive decline in the later stage. P102L is the most common mutation in GSS. We report a patient with a P102L mutation that initially manifested as rapidly progressive dementia without cerebellar symptoms.
Cerebellar Ataxia ; Creutzfeldt-Jakob Syndrome ; Dementia ; Gerstmann-Straussler-Scheinker Disease ; Humans ; Prion Diseases ; Prions

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is very rare human prion disease. But, neurologists take a key role in diagnosis, surveillance and management of the cases because of its complexity and difficulty in diagnosis of the disease. The aim of this study is to investigate the level of awareness and preparedness of Korean neurologists on this rare disease. METHODS: Survey sheets of self-administered questionnaire were given to Korean neurologists who participated in the 31st Annual Meeting of the Koran Neurological Association. Data from 133 respondents were conducted by descriptive analysis. RESULTS: Their answers were as follows: About 62% of neurologists have experienced patients of CJD. Forty-four percent of the patients were confirmed by brain biopsy. Most of neurologists (44%) were not confident to diagnose CJD and the reason why they felt hard to diagnose was due to the variable initial clinical manifestations (45.1%) and the lack of clinical experience (51.9%). Heidenheim variant CJD, proteinase sensitive prionopathy, molecular subtypes of sporadic CJD, diagnostic criteria was not familiar term to Korean neurologists (76.7%, 53.4%, 58.6%, and 62.4% respectively). Opinion for the most useful diagnostic tool was brain MRI (45.1%), CSF 14-3-3 protein (30.1%), typical EEG finding (36.8%) and gene (PRNP) test (42.9%). And they consider none of them are specific for the diagnosis of CJD (89.5%, 73.7%, 83.5%, 91.7%, respectively). Most of the neurologist in this survey answered that the opportunity for education of CJD should be increased (67.7%). CONCLUSIONS: Most of neurologists have encountered CJD patients although it is very rare disease. Some of the important and fundamental concepts of CJD were not correctly recognized to Korean neurologists, necessitating a persistent support for updating knowledge and information.
14-3-3 Proteins ; Biopsy ; Brain ; Creutzfeldt-Jakob Syndrome ; Surveys and Questionnaires ; Electroencephalography ; Encephalopathy, Bovine Spongiform ; Humans ; Korea ; Prion Diseases ; Rare Diseases

BACKGROUND: Gerstmann-Straussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy (TSE) that is determined genetically. CASE REPORT: A 46-year-old woman presented with a slowly progressive ataxic gait and cognitive decline. She was alert but did not cooperate well due to severe dementia and dysarthria. High signal intensities in the cerebral cortices were evident in MRI, especially in diffusion-weighted images (DWI). A prion protein gene (PRNP) analysis revealed a P102L (proline-to-leucine) mutation in codon 102. CONCLUSIONS: This is the first reported case of GSS (confirmed by PRNP analysis) in Korea. Distinctive MRI findings are also presented.
Cerebral Cortex ; Codon ; Dementia ; Dysarthria ; Female ; Gait ; Gerstmann-Straussler-Scheinker Disease ; Humans ; Korea ; Middle Aged ; Prion Diseases

Creutzfeldt-Jakob disease (CJD) is one of the transmissible spongiform encephalopathies, which is mediated by what has been known as "prion". It is a rare and fatal progressive neurodegenerative disease that affects the middle and old aged. There are a number of subtypes of CJD, one of which is the sporadic type characterized by rapidly progressing clinical symptoms, including progressive dementia, myoclonic jerk, and pyramidal or extrapyramidal syndrome. Patients usually end up dying within 1 to 2 years of contacting the disease. We report an autopsy-proven case of sporadic CJD with clinical symptoms that progressed within several days, along with dramatic changes on diffusion weighted magnetic resonance images.
Brain ; Creutzfeldt-Jakob Syndrome ; Dementia ; Diffusion ; Humans ; Myoclonus ; Neurodegenerative Diseases ; Prion Diseases

PURPOSE: Through the understanding of the current status of transmissible spongiform encephalopathy(TSE), this study was conducted to contribute to the development of policy and strategy for the control of TSE in Korea in order to keep Korea as a bovine spongiform encephalopathy(BSE)- and variant Creutzfeldt-Jakob disease(vCJD)-free country. BSE and vCJD cases have not been found in Korea. During 2001-2004, the number of patients who have been diagnosed as a definite or probable CJD was 121, which are consisted of 62 male and 59 female(average age: 63 years old). The occurrence of the patients was 5-59 people per year until 2003 and has been gradually increasing due to the recent increase in the diagnostic rate rather than the increase of the incidence. In 2004, the annual occurrence of sporadic CJD(sCJD) in Korea was 1 people per million, which is similar to the average occurrence rate of the world. Two cases of chronic wasting disease(CWD) in deer were found in Chungcheongbuk-do, one in August 2001 and one in October 2001. After that, 4 more CWD-affected deer have been reported in Kyungsangnam-do area in November 2004. We have also examined the possibility that Korean CJD occurred as a result of dietary exposure to BSE. Fortunately, all of Korean CJD patients were not vCJD cases. However, if BSE occurs in Korea, there is a great potential for most of the Korean population to be easily infected with BSE due to their highly susceptible genotype to BSE infection as well as their traditional food habit. In 2003, the total number of people who left Korea was almost identical with the total number of people who entered Korea. However, we could not analyze the number of people who visited or stayed in the UK and Europe during 1980s~1990s, in which BSE was prevalent in Europe, because there was no statistical data available.
Chungcheongbuk-do ; Creutzfeldt-Jakob Syndrome* ; Deer ; Europe ; Food Habits ; Genotype ; Humans ; Incidence ; Korea* ; Male ; Prion Diseases

No abstract available.
Animals ; Cattle ; Creutzfeldt-Jakob Syndrome* ; Encephalopathy, Bovine Spongiform*

Creutzfeldt-Jakob disease (CJD) is a human prion disease with rapidly progressive neurodegeneration. The major clinical manifestations of CJD include mental deterioration, myoclonus, cerebellar dysfunction, and neuro-ophthalmic symptoms and signs. However, abnormal eye movements as an early sign of CJD are rare. We report a 49-year-old man with periodic alternating nystagmus in early disease course.
Cerebellar Diseases ; Creutzfeldt-Jakob Syndrome ; Eye Movements ; Fixation, Ocular ; Humans ; Middle Aged ; Myoclonus ; Nystagmus, Pathologic ; Prion Diseases

Transmissible Spongiform Encephalopathy (TSE) or prion diseases are fatal neurodegenerative diseases, which are caused by transmissible abnormal prion proteins, converting the endogenous normal prion in the body to the infectious abnormal prions. The most common form of human prion diseases is Creutzfeldt - Jakob disease (CJD). Most of CJD are sporadic with unknown cause. Some familial or iatrogenic CJDs are reported in many countries, but there have been no formally reported case in Korea. Variant CJD (vCJD) is a new form of human prion disease, which revealed differentiated clinical presentations and laboratory diagnostic results. vCJD was thought to be originated from eating the beefs or other parts of bovine spongiform encephalopathy (BSE) infected cattle. The unpredictable species barriers, the underestimated distribution of prion infected tissues, the variable clinical courses, and uncertain disease progressions of many prion diseases, all made the prion related risk assessment very difficult. Korea needs our own surveillance system for various prion diseases of human and animals and to make plans for the risk assessment of the various prion disease transmissions for the minimal spread by maximizing the research capacities.
Animals ; Cattle ; Disease Progression ; Eating ; Encephalopathy, Bovine Spongiform ; Humans ; Korea ; Neurodegenerative Diseases ; Prion Diseases ; Prions ; Risk Assessment

OBJECTIVES: This study estimated the overall incidence of iatrogenic Creutzfeldt-Jakob disease (iCJD) based on dura graft cases in Korea using a mathematical model. METHODS: We estimated the number of annual dura grafts performed between 1980 and 1995 by applying the proportion of dura grafts recorded by the Health Insurance Review Agency claim dataset in Korea to the number of nationwide neurosurgery cases. The distribution of the incubation period was assumed to fall under a Weibull distribution with density function or a log-logistic distribution with density function. RESULTS: The total number of neurosurgery procedures performed from 1980 to 1995 was estimated to be 263,945, and among those operations, 37% used dura graft products. Between the years of 1980 and 2020, our model predicted that the total number of iCJD cases would be between 14.9 and 33.2 (95% confidence interval [CI], 13.4 to 50.9). Notably, we estimated that the cumulative number of iCJD cases caused by dura grafts between 1980 and 2011 was approximately 13.3 to 27.3 (95% CI, 12.2 to 40.6). CONCLUSIONS: Based on our model, we postulate that the incidence of iCJD will sharply decline from 2012 to 2020. However, additional new cases are still expected, which necessitates a strong national surveillance system.
Cadaver* ; Creutzfeldt-Jakob Syndrome* ; Dataset ; Dura Mater* ; Incidence ; Insurance, Health ; Korea* ; Models, Theoretical ; Neurosurgery ; Prion Diseases ; Transplants*

Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. We collected and analyzed the data of 218 Chinese gPrD patients identified between Jan 2006 and June 2020. Nineteen different subtypes were identified and gPrDs accounted for 10.9% of all diagnosed PrDs within the same period. Some subtypes of gPrDs showed a degree of geographic association. The age at onset of Chinese gPrDs peaked in the 50-59 year group. Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI) cases usually displayed clinical symptoms earlier than genetic Creutzfeldt-Jakob disease (gCJD) patients with point mutations. A family history was more frequently recalled in P105L GSS and D178N FFI patients than T188K and E200K patients. None of the E196A gCJD patients reported a family history. The gCJD cases with point mutations always developed clinical manifestations typical of sporadic CJD (sCJD). EEG examination was not sensitive for gPrDs. sCJD-associated abnormalities on MRI were found in high proportions of GSS and gCJD patients. CSF 14-3-3 positivity was frequently detected in gCJD patients. Increased CSF tau was found in more than half of FFI and T188K gCJD cases, and an even higher proportion of E196A and E200K gCJD patients. 63.6% of P105L GSS cases showed a positive reaction in cerebrospinal fluid RT-QuIC. GSS and FFI cases had longer durations than most subtypes of gCJD. This is one of the largest studies of gPrDs in East Asians, and the illness profile of Chinese gPrDs is clearly distinct. Extremely high proportions of T188K and E196A occur among Chinese gPrDs; these mutations are rarely reported in Caucasians and Japanese.
14-3-3 Proteins/cerebrospinal fluid* ; China ; Creutzfeldt-Jakob Syndrome/genetics* ; Humans ; Mutation/genetics* ; Prion Diseases/genetics* ; Prion Proteins/genetics* ; Prions/genetics* ; tau Proteins/cerebrospinal fluid*