Author Interviews, Infections, JAMA / 21.10.2020 Interview with: Liliana Sanchez-Gonzalez MD, MPH Medical Epidemiologist Dengue Branch – Division of Vector Borne Diseases Centers for Disease Control and Prevention San Juan, PR What is the background for this study? Would you briefly explain the significance of prion disease? Response: Prion diseases are neurodegenerative diseases that occur in animals and humans. These diseases are caused by an infectious agent known as a prion. While the accuracy of diagnostic tests using cerebrospinal fluid or brain imaging from living patients has improved greatly in recent years, analysis of brain tissue is still necessary to confirm the diagnosis of these diseases. Human prion disease cases are rare, but always fatal. There have been around 500 reported cases annually in the US in recent years. A very small percentage of human prion disease cases are acquired, meaning they are caused by an exposure to the infectious agent from an external source. The most well-known acquired human prion disease is variant Creutzfeldt-Jakob disease (vCJD), which was first described in the United Kingdom in 1996 and linked to consumption of contaminated beef from cattle with the animal prion disease bovine spongiform encephalopathy (BSE, or “mad cow” disease). The only US state where classic BSE has been reported is Washington, where an infected dairy cow was imported from Canada in 2003. Beef from the slaughtered cow was processed for human consumption, and beef from cattle slaughtered the same day at the involved slaughter plant was recalled. After this incident, the Washington State Department of Health, in collaboration with the US Centers for Disease Control and Prevention and the National Prion Disease Pathology Surveillance Center (NPDPSC), implemented enhanced human prion disease surveillance. All patients with positive results from tests conducted at the NPDPSC are investigated. We present the results of 12 years of human prion disease surveillance, from 2006 to 2017, plus results of surveillance for vCJD through July 2020. (more…)
Author Interviews / 23.01.2019 Interview with: Byron Caughey, Ph.D.  Senior Investigator Chief, TSE/prion Biochemistry Section Laboratory of Persistent Viral Diseases NIH/NIAID Rocky Mountain Laboratories . Hamilton, MT 59840 USA What is the background for this study? Would you briefly explain the significance of prion-induced diseases and why they have been difficult to diagnosis?  Response: Although prion diseases such as Creutzfeldt-Jakob disease (CJD) are rarer than many other neurodegenerative diseases in humans, they are rapidly fatal, untreatable and transmissible. Therefore it is important to be able to diagnose prion diseases as early as possible, not only to accurately inform patients, families and caregivers, but also to reduce risks of transmission and  improve prospects for developing therapeutics. Toward these goals, we have shown that our RT-QuIC prion seed amplification assays are highly accurate for diagnosing sporadic CJD using patients’ spinal fluid and/or nasal brushings in the clinical phase of disease. However, these particular specimens may not always be available, and it remains unclear how early they become RT-QuIC-positive in infected individuals in the months or years prior to the onset of overt clinical signs. We also showed recently that skin samples obtained post-mortem from sCJD patients are RT-QuIC positive. In the current study, we determined how early prion seeds appear in the rodents infected with prions in order to gain clues as to whether analyses of skin biopsies might provide a means of early preclinical detection of prion infections in humans. (more…)
Author Interviews, Infections, NIH, Ophthalmology / 05.12.2018 Interview with: Top, retina of a control patient. Bottom, retina from a patient with CJD. Arrowheads point to abnormal prions in the outer plexiform layer (opl), and the asterisk (*) marks more diffuse prions in the inner plexiform layer (ipl).Orrù et al., mBioByron Caughey, Ph.D. Senior Investigator Chief, TSE/prion Biochemistry Section Laboratory of Persistent Viral Diseases NIH/NIAID Rocky Mountain Laboratories Hamilton, MT 59840 USA What is the background for this study? What are the main findings?  Response: Corneal transplants have caused the transmission of Creutzfeldt-Jakob disease (CJD) in at least two cases, and pathological prion protein has been detected in the retinas of the eyes of sporadic CJD cases. To build on these previous indications of prions in eye tissue, we tested the distribution of prions in various components of eyes from 11 sCJD decedents. We applied a highly sensitive surrogate test for prions (RT-QuIC) that indicated that all of the sCJD cases had prions in multiple parts of their eye, including the cornea and sclera, which is the white outer surface of the eye. Retinas were usually contained the highest levels, in some cases approaching levels in the brain. Some other parts such as the cornea, lens and vitreous had much lower, but detectable, levels.  (more…)
Author Interviews, Cognitive Issues, Dermatology, Infections, Mental Health Research, Neurological Disorders, NIH / 23.11.2017 Interview with:   Byron Caughey, Ph.D. Senior Investigator Chief, TSE/prion Biochemistry Section Laboratory of Persistent Viral Diseases NIH/NIAID Rocky Mountain Laboratories Hamilton, MT Would you briefly explain what is meant by Creutzfeldt-Jakob disease? Response: Creutzfeldt-Jakob disease (CJD) is an incurable—and ultimately fatal—transmissible, neurodegenerative disorder in the family of prion diseases. Prion diseases can be found in many mammalian species and are due to the conversion of normally harmless prion protein molecules into abnormally folded, aggregated and self-propagating clusters and filaments in the brain. The accumulation of these clusters has been associated with tissue damage that often leaves dying neurons and microscopic sponge-like holes in the brain. In the sporadic and genetic forms of CJD this pathogenic process appears to arise spontaneously in the patient. However, the transfer of the prion protein aggregates from a Creutzfeldt-Jakob disease patient into another human or experimental animal can initiate the pathogenic process in the recipient. These infectious forms of prion protein are called prions. Human prion diseases include fatal insomnia; kuru; Gerstmann-Straussler-Scheinker syndrome; and variant, familial and sporadic CJD. Sporadic CJD is the most common human prion disease, affecting about one in one million people annually worldwide. Other prion diseases include scrapie in sheep; chronic wasting disease in deer, elk and moose; and bovine spongiform encephalopathy (BSE), or mad cow disease, in cattle. (more…)
Author Interviews, Infections, JAMA / 26.02.2014 Interview with: Tobias Skillbäck, MD Clinical Neurochemistry Laboratory Institute of Neuroscience and Physiology Department of Neurochemistry, Sahlgrenska Academy University of Gothenburg Mölndal, Sweden What are the main findings of the study? Dr. Skillbäck: There were two main findings in this study. First; Levels of t-tau and the T-tau/P-tau ratio in CSF of CJD (Creutzfeldt-Jakob Disease) patients are markedly increased, as compared to patients with Alzheimer's disease and other dementias, and they  are high enough to distinguish CJD against these important differential diagnoses. Secondly, levels of these biomarkers tend to increase rapidly with disease progress in Creutzfeldt-Jakob Disease. This trend could not be observed for Alzheimer's disease and other dementias, and could also be used to clinically distinguish CJD and indicates that repeated CSF measurements might be of value if a clinical suspicion of Creutzfeldt-Jakob Diseaseis present. (more…)