Related Experiment Video
Updated: Jun 25, 2026
10:40
Adipose-Derived Mesenchymal Stromal Cells Co-Cultured with Primary Mixed Glia to Reduce Prion-Induced Inflammation
Published on: August 11, 2023
[Prion disease--the present status and recent progress in Japan]
1Department of Neurology and Neurological Science Graduate School, Tokyo Medical and Dental University.
Rinsho Shinkeigaku = Clinical Neurology
|February 10, 2009
Summary
Since 1999, 1051 prion disease cases were identified in Japan. Genetic testing is crucial for all prion diseases, including sporadic Creutzfeldt-Jakob disease (sCJD), due to frequent lack of family history.
Area of Science:
- Neurology
- Infectious Diseases
- Genetics
Context:
- Prion diseases, including sporadic Creutzfeldt-Jakob disease (sCJD), pose diagnostic challenges.
- Surveillance data from Japan since 1999 reveals 1051 identified cases.
- Idiopathic cases (77.8%) are predominantly sCJD, with MM1 being the most common subtype.
Purpose:
- To summarize the epidemiological and clinical features of prion diseases in Japan.
- To highlight diagnostic challenges and the importance of genetic testing.
- To review classification, common mutations, and diagnostic aids for various prion disease subtypes.
Summary:
- Idiopathic prion disease (sCJD) comprises 77.8% of cases, with MM1 subtype showing classical features.
- Rare sCJD subtypes (MM2, MV2, VV1, VV2) present atypical symptoms, aided by DW-MRI and CSF analysis.
- Hereditary prion diseases include familial CJD, GSS, and FFI, with specific gene mutations (V180I, E200K, M232R, P102L) being common.
Impact:
- Emphasizes the necessity of genetic testing for all prion disease diagnoses, irrespective of family history.
- Highlights the utility of advanced imaging (DW-MRI) and cerebrospinal fluid (CSF) biomarkers in diagnosing atypical sCJD.
- Provides a comprehensive overview of prion disease classification and prevalence in Japan, aiding future research and clinical management.
Related Concept Videos
03:03Amyloid Fibrils
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
01:28Infectious Diseases and Their Occurrence
Infectious diseases appear in populations through various transmission patterns, influenced by pathogen characteristics, population immunity, environmental conditions, and social behavior. Understanding these patterns is essential for effective public health surveillance and intervention. These categories—sporadic, outbreak, epidemic, pandemic, and endemic—help frame the nature and scope of disease events.Sporadic diseases occur irregularly and infrequently, without a predictable temporal or...
01:21EPS and iPS Cells in Disease Research
Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
01:23Investigation of Disease Outbreaks
Multistate foodborne outbreaks pose significant public health risks and require meticulous investigation to identify sources and implement control measures. The Centers for Disease Control and Prevention (CDC) utilizes a dynamic seven-step process for these investigations, integrating data from laboratories, interviews, and environmental assessments to protect public health.Outbreak Detection: The detection of multistate outbreaks typically begins with PulseNet, the CDC's national laboratory...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...