UNASSIGNED: Creutzfeldt-Jakob disease is a neurodegenerative disorder caused by brain accumulation of a misfolded form of the cellular prion protein, whose diagnosis is challenging, particularly in early stages, due to the variability and nonspecificity of the clinical and radiological features. 18F-fluorodeoxyglucose positron-emitted tomography has the potential to be considered a crucial investigation in these patients, revealing metabolic abnormalities earlier than the conventional neuroimaging analysis.
UNASSIGNED: A 59-year-old man, the military officer, was referred to our Units for the onset of neurological symptoms rapidly evolving within a month, characterized by akinetic mutism, constructional apraxia, and disorders of spatial orientation. Brain 18F-fluorodeoxyglucose (18F-FDG) positron-emitted tomography (PET)/CT depicted an asymmetric hypometabolism in the left fronto-temporo-parietal cortex, as well as in the left thalamus and the right cerebellar hemisphere, while the glucose metabolism appears to be preserved in the somatosensory cortex and the basal ganglia. Laboratory routine analyses, cerebrospinal fluid routine, infective tests, electroencephalography (EEG), and brain magnetic resonance (MR) were all unremarkable. A positive RT-QuIC result on cerebro-spinal fluid (CSF) was subsequently shown, without any pathogenic gene mutations and, therefore, the result was consistent with a diagnosis of sporadic Creutzfeld-Jacob disease. The clinical evolution was quickly unfavorable, and the patient died about 4 months after hospital admission. FDG PET/computed tomography (CT) has the potential to be considered a crucial investigation in these patients, documenting metabolic changes long time before other diagnostic investigations such as CSF, EEG, brain CT, and brain MR, thus suggesting a greater sensitivity of glucose metabolic evaluation in the early stage of the disease in question.

Heroin-induced leukoencephalopathy (HLE) is a rare toxic encephalopathy associated primarily with heroin inhalation, commonly referred to as \"chasing the dragon.\" This study presents a clinical case of a 27-year-old polydrug user diagnosed with HLE during hospitalization for rapidly progressive flaccid tetraplegia and aphasia. The clinical manifestations encompassed cerebellar and bulbar dysfunction, coupled with motor impairment and altered consciousness. Based on the clinical data and MRI results, HLE was identified as the most likely cause. This article aims to provide insights into the clinical and radiological aspects of HLE, emphasizing the diagnostic significance of radiological findings. The gold standard examination for diagnosis is MRI, crucial due to the difficulties in obtaining histological confirmation for this rare condition.

Creutzfeldt-Jakob disease is a rare and incurable form of rapidly progressive neurodegenerative disease. The disease is fatal, and most patients die within 1 year of diagnosis. Clinical features include progressive cognitive dysfunction, delusions or hallucinations, cerebellar ataxia, myoclonus, visual disturbances, extrapyramidal signs and eventually akinetic mutism. Most patients present with varied clinical presentation, hence making it difficult to diagnose at an early stage. We report five cases of sporadic Creutzfeldt-Jakob disease presenting to a Tasmanian hospital in Australia over a period of 52 months. We highlight significant clinical features in all our patients including few atypical presentations, emphasise on relevant clinical biomarkers and illustrate characteristic abnormalities on electroencephalogram and neuroimaging.

In the 1950\'s, the American Carleton Gajdusek (1923-2008) was able to find the cause for kuru, a systematically fatal neurological disease, observed mainly on the Western Highlands of New Guinea. While living for a long period with the local indigenous population and studying their customs, he evidenced the infectious origin of this pathology and its transmission mechanism, cannibalism. He also demonstrated the transmissible nature of the agent of Creutzfeldt-Jakob. His works opened an important prospective field of research in neuroscience. A Nobel prize rewarded this outstanding scientific and human adventure.

Sporadic Creutzfeldt-Jakob disease (sCJD) is the most commonly diagnosed human prion disease caused by the abnormal misfolding of the \'cellular\' prion protein (PrPC) into the transmissible \'scrapie-type\' prion form (PrPSc). Neuropathologic evaluation of brains with sCJD reveals abnormal PrPSc deposits primarily in grey matter structures, often associated with micro-vacuolar spongiform changes in neuropil, neuronal loss, and gliosis. Abnormal PrPSc deposits have also been reported in the retina of patients with sCJD, but few studies have characterized the morphology of these retinal PrPSc deposits or evaluated for any retinal neurodegenerative changes. We performed histopathologic and morphometric analyses of retinal and brain prion deposits in 14 patients with sCJD. Interestingly, we discovered that the morphology of retinal PrPSc deposits generally differs from that of brain PrPSc deposits in terms of size and shape. We found that retinal PrPSc deposits consistently localize to the outer plexiform layer of the retina. Additionally, we observed that the retinal PrPSc deposits are not associated with the spongiform change, neuronal loss, and gliosis often seen in the brain. The stereotypic morphology and location of PrPSc deposits in sCJD retinas may help guide the use of ocular imaging devices in the detection of these deposits for a clinical diagnosis.

Epidemiology is aimed at the study of the health status of human and animal populations. The present review shows how epidemiologists in the UK and France, contributed to a better knowledge of the bovine spongiform encephalopathy (BSE), its probable origin, and its associated risk factors. Following case studies and case-control surveys, the role of meat and bone meal (MBM) as the source of infection for cattle has been well established. Other epidemiological studies have shown the absence of horizontal transmission, but on the other hand a cohort study concluded to a possible vertical transmission. Backcalculation models, which intend to infer the characteristics of infection from the observations, agree on two results : first, the BSE infects young animals, under 2 years. Secondly, the peak of the French BSE epizootic, probably in the nineteen-eighties, was ignored. Successive measures concerningMBMfailed to completely abolish the epizootic. The analysis of born-after-the-ban (BAB) cases shows that their spatial distribution in France is not random, which argues against a sporadic origin. The French BAB cases may result from two nonexclusive events : residual contaminations of cattle by feed intended for pigs and poultry, and mother-to-calf prion transmission, likely at a low rate. If a total eradication of BSE is not obtained, it will be the task of epidemiologists in particular, to figure out the source of the residual infection.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a transmissible disorder of the central nervous system caused by the transformation of normal prion protein into an abnormal misfolded form. The process begins spontaneously and runs a vicious cycle to cause spongiform encephalopathy, rapidly resulting in death. Amply described in the western literature, CJD is scarcely reported in Asia due to certain limitations including missed diagnosis, under-reporting, and rarity of the disease. Brain MRI, electroencephalogram, cerebrospinal fluid testing, and biopsy of the infected brain tissue support the diagnosis in cases of clinical suspicion. However, the diagnosis can still be made with limited available resources in developing countries.
A review of CJD cases evaluated in the neurology department of a tertiary care hospital in Pakistan was done from 2002 to 2018.
Eleven cases labeled as sCJD are identified based on the European MRI-CJD consortium criteria. This is the first study on CJD from Pakistan, which includes both the typical and atypical presentations.
Even with limited testing available, the diagnosis of CJD can be made with confidence in the developing countries, provided the suspicion is kept high in cases of rapid onset dementia and acute behavioral changes.

Spongiform encephalopathy (SE) is a rare prion disorder characterized by progressive cognitive dysfunction and mortality. Affected patients can observe a wide variety of neurological symptoms, such as myoclonus, dementia, cerebellar signs, and others. We present a case of laboratory-confirmed SE in an otherwise healthy 57-year-old medical professional who initially presented with nonspecific and unique \"head in a fish-bowl\" dissociation and cognitive decline. No social risk factors were ever identified other than his healthcare career, but subsequent neuroimaging, serology, and lumbar puncture confirmed a diagnosis of sporadic SE due to unknown etiology. He was then treated symptomatically and referred ultimately to palliative care. The patient passed while in hospice care with time from the initial diagnosis to mortality being only 42 days. Given his vague but uniquely rapid deterioration and subsequent mortality, we highlight an opportunity to discuss diagnosis, management, quality improvement, and ethical concerns associated with SE prognosis. We aim to help primary care physicians and neurologists better elucidate the risk factors, signs and symptoms, and pathophysiology of SE to make an early diagnosis. Symptoms can then be managed effectively and palliative services coordinated via a legal and compassionate shared decision-making approach. We recommend that once a diagnosis is made, a discussion with the patient and their family about advance directives and end-of-life care be coordinated as soon as reasonably possible. This should be carried out by a multidisciplinary team consisting of the patient\'s primary care physician and neurologist, as well as a social worker, palliative care physician, and counselor (spiritual or otherwise). It is our hope that through a better understanding of these factors in SE care, quality of life improvement protocols in similarly-debilitating neurocognitive diseases can be developed.

UNASSIGNED: Epidemiologic studies of Creutzfeldt-Jakob disease (CJD) have been undertaken worldwide since the new variant CJD outbreak in 1996 in the United Kingdom. A nationwide report system, the Creutzfeldt-Jakob Disease Surveillance Unit (CJDSU), directed by the Centers for Disease Control of Taiwan, was established in 1997 to identify human prion diseases.
UNASSIGNED: From 1998 to 2017, 647 cases were referred to the committee for confirmation. The report to CJDSU included a structured questionnaire recording the clinical, demographic data, and potential iatrogenic exposure, and the results of the clinical and laboratory examination, including tests of blood and cerebrospinal fluid, electroencephalography, and brain magnetic resonance imaging.
UNASSIGNED: In total, 356 cases (women, n=178) were ascertained to be human prion diseases, and 97.4% (n=347) were sporadic CJD, including three definite, 314 probable, and 30 possible cases; one probable variant CJD and 8 cases of the genetic form human prion diseases. The age- and gender-specific average annual incidence were also significantly higher in the second decade (0.95/1,000,000) than in the first decade (0.63/1,000,000), with an incidence rate ratio of 1.51. The incidences increased with increasing age, reaching a peak at the age of 70-79 years. The 10-year survival curve for sCJD patients showed that the 1-, 5-, and 10-year cumulative survival rate were 52%, 5%, and 1%, respectively. PRNP polymorphisms in 170 patients showed that 98.8% were M129M and 97.6% E219E.
UNASSIGNED: The significant increase in incidence after 2008 suggests the increase in the awareness of this rare disease among physicians. The longer disease duration in patients with sCJD in Taiwan than in other countries indicates that the comprehensive support of the health care system, as well as the end-of-life care culture in Taiwan, may prolong survival time in patients with such a progressive and fatal disease.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rare, fatal, neurodegenerative prion disease potentially transmissible through corneal transplantation. While statistical analyses performed two decades ago estimated the overall prevalence of CJD in the corneal donor pool to be low, the recent significant increase in corneal transplants performed and deaths due to CJD in the U.S. warrants a contemporary risk analysis.
METHODS: A literature review was conducted to determine the overall number of globally reported cases of CJD transmission through corneal transplantation. U.S. mortality and cornea donation data were utilized to estimate the age-stratified prevalence of undiagnosed, latent CJD in the cornea donor pool in 2018. A historical statistical analysis was performed to estimate the number of corneas from donors with latent CJD entering the U.S. donor pool for each year between 1979 and 2018. From these statistical analyses, risk factors of iatrogenic transmission were identified and summarized.
RESULTS: Ten reported cases of iatrogenic transmission of CJD through corneal transplants were identified globally. In 2018, an estimated 3.8 corneas from donors with undiagnosed latent CJD potentially entered the pool of 111,703 transplant-intended corneas harvested from individuals aged 31-80. Between 1979 and 2018, an estimated 47 corneas may have entered the U.S. transplant-intended pool from donors with latent CJD aged 35 to 84. The advanced age of donors and a history of multiple transplants in recipients were both prominent risk factors for iatrogenic transmission.
CONCLUSIONS: The 10 reported global cases of iatrogenic transmission likely under-represent the number of individuals with a coinciding history of death by CJD and prior corneal transplantation, as supported by our statistical analysis and lack of geographical diversity of reported cases. As effective screening methods develop and globalization of cornea transplantation broadens, it is of utmost importance that cornea transplantation history among victims of CJD should be investigated and reported.