Genome-Wide Loss of Heterozygosity Predicts Aggressive, Treatment-Refractory Behavior in Pituitary Neuroendocrine Tumors

Prediction of Invasiveness and Treatment Resistance Behavior of Pituitary Neuroendocrine Tumors Based on Genome-Wide Loss of Heterozygosity Background: Pituitary neuroendocrine tumors (PitNETs) are mostly benign, but a small portion exhibit invasive and treatment-resistant behaviors, continuing to grow or metastasize even after surgery, conventiona...

Aberrant CHCHD2-Associated Mitochondriopathy in Kii ALS/PDC Astrocytes

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...

Disentangling the Heterogeneity of Multiple Sclerosis Through Identification of Independent Neuropathological Dimensions

Research Background Multiple Sclerosis (MS) is a common disease involving lesions in the central nervous system, characterized mainly by demyelination of neuronal axons and neuronal damage. The heterogeneity of the disease is extremely high, meaning that different patients exhibit varying symptoms and pathological mechanisms, which greatly complica...

Annexin A11 Aggregation in FTLD-TDP Type C and Related Neurodegenerative Disease Proteinopathies

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...

Clinically Unfavorable Transcriptome Subtypes of Non-WNT/Non-SHH Medulloblastomas are Associated with a Predominance in Proliferating and Progenitor-Like Cell Subpopulations

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...

Alteration of Gene Expression and Protein Solubility of the PI5-Phosphatase SHIP2 are Correlated with Alzheimer’s Disease Pathology Progression

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...

Early and Selective Localization of Tau Filaments to Glutamatergic Subcellular Domains within the Human Anterodorsal Thalamus

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 ...

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...