Study Report on Abnormal CHCHD2-Related Mitochondrial Pathology in Astrocytes in Kii ALS/PDC I. Research Background Amyotrophic lateral sclerosis/Parkinsonism-dementia complex (ALS/PDC) is a rare and complex neurodegenerative disorder primarily observed in Western Pacific islands such as Japan, Guam, and Papua New Guinea. Patients with this disease...
Co-localization of Gangliosides with Amyloid Beta Plaques in Alzheimer’s Disease Detected by MALDI-MSI and Histology Alzheimer’s Disease (AD) is a progressive neurodegenerative disease characterized by cognitive impairment and behavioral changes. Historically, AD research has focused on misfolded proteins, but with advancements in mass spectrometry...
Study on Annexin A11 Aggregation and TDP-43 Proteinopathies in Neurodegenerative Diseases In this research report published in Acta Neuropathologica, researchers led by John L. Robinson from the University of Pennsylvania investigate the aggregation phenomena of Annexin A11 in neurodegenerative diseases, particularly in FTLD-TDP Type C, which is as...
Association of Adverse Transcriptomic Subtypes of Non-WNT/Non-SHH Medulloblastoma with the Dominance of Proliferative and Progenitor-like Subpopulations Research Background Medulloblastoma (MB) is one of the most common malignant tumors of the central nervous system in children. Based on molecular characteristics, the medical community typically cl...
Changes in Gene Expression and Protein Insolubility in Alzheimer’s Disease Progression Background Introduction As the most common type of dementia, Alzheimer’s Disease (AD) is well-known for its two main neuropathological features: amyloid plaques and neurofibrillary tangles (NFTs). Amyloid plaques consist of β-amyloid (Aβ) peptide segments generat...
Background The main purpose of this study is to investigate the distribution and diffusion patterns of tau protein in the early stages of Alzheimer’s disease, with a particular focus on the vulnerability of calretinin-positive neurons in the anterodorsal thalamic nucleus of the human subcortical region and the accumulation of tau pathology protein ...
Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...
Detection of Seeding Activity of Human Superoxide Dismutase 1 Aggregates in Postmortem Neural Tissues of Familial and Sporadic Amyotrophic Lateral Sclerosis Patients Background Introduction Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressing neurodegenerative disease with an average survival time of 2 to 5 years after diagnosis. Major symp...
Research Background Myasthenia Gravis (MG) is a chronic antibody-mediated autoimmune disease that primarily affects synaptic transmission at the neuromuscular junction. Approximately 85% of MG patients are antibody-mediated targeting acetylcholine receptors (AChR). The clinical features of this disease include muscle weakness, especially fatigue-in...
Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...