Abundant Transcriptomic Alterations in the Human Cerebellum of Patients with a C9orf72 Repeat Expansion

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 ...

Seeding Activity of Human Superoxide Dismutase 1 Aggregates in Familial and Sporadic Amyotrophic Lateral Sclerosis Postmortem Neural Tissues by Real-Time Quaking-Induced Conversion

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...

Inter-alpha-trypsin inhibitor heavy chain h3 is a potential biomarker for disease activity in myasthenia gravis

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...

Characterization of NEB Pathogenic Variants in Patients Reveals Novel Nemaline Myopathy Disease Mechanisms and Omecamtiv Mecarbil Force Effects

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...

BTK Inhibition Limits Microglia-Perpetuated CNS Inflammation and Promotes Myelin Repair

Research Report: Effect of Bruton Tyrosine Kinase Inhibitor Evobrutinib on Myelin Repair and CNS Inflammation in Multiple Sclerosis Background Introduction Multiple Sclerosis (MS) is a demyelinating disease of the Central Nervous System (CNS) where the myelin sheath of patients is damaged by inflammation. Traditionally, MS is considered to be prima...

Stage-dependent immunity orchestrates AQP4 antibody-guided NMOSD pathology: A role for netting neutrophils with resident memory T cells in situ

Stage-Dependent Immune Responses Mediated by AQP4 Antibodies in NMOSD Pathology in the Central Nervous System Academic Background Neuromyelitis optica spectrum disorders (NMOSD) are autoimmune diseases of the central nervous system (CNS), characterized by the production of specific antibodies against the water channel protein Aquaporin-4 (AQP4). Al...

Brain vasculature accumulates tau and is spatially related to tau tangle pathology in Alzheimer's disease

Study of Tau Protein Accumulation in Brain Vasculature in Alzheimer’s Disease Background Introduction Alzheimer’s disease is characterized by neurodegeneration, with primary pathological features including amyloid plaques and neurofibrillary tangles (NFTs). These tangles are composed of tau protein, and these pathological changes are closely relate...

Ferroptosis Inhibitor Improves Outcome After Early and Delayed Treatment in Mild Spinal Cord Injury

Ferroptosis Inhibitors Improve Early and Delayed Treatment Outcomes of Mild Spinal Cord Injury Academic Background Spinal cord injury (SCI) causes significant secondary damage not only in the acute period but also in the chronic period. These injuries are typically triggered by multiple factors, including oxidative stress, inflammatory response, an...

Associations of CSF BACE1 with Amyloid Pathology, Neurodegeneration, and Cognition in Alzheimer’s Disease

Original Title: 《Associations of CSF BACE1 with Amyloid Pathology, Neurodegeneration, and Cognition in Alzheimer’s Disease》 Background and Research Purpose Alzheimer’s Disease (AD) is a leading cause of dementia in the elderly, characterized by the accumulation of β-amyloid protein (Aβ) plaques in the brain. Beta-site APP cleaving enzyme 1 (BACE1) ...

The Influence of APOEε4 on the pTau Interactome in Sporadic Alzheimer's Disease

The Influence of APOEε4 on the pTau Interactome in Sporadic Alzheimer’s Disease Background Alzheimer’s disease (AD) is a neurodegenerative disease characterized by extracellular deposition and aggregation of β-amyloid protein (Aβ) forming various types of Aβ deposits and the intracellular accumulation and assembly of abnormally phosphorylated tau p...