Increased prevalence of granulovacuolar degeneration in C9orf72 mutation

AbstractGranulovacuolar degeneration (GVD) is usually found in Alzheimer ’s disease (AD) cases or in elderly individuals. Its severity correlates positively with the density of neurofibrillary tangles (NFTs). Mechanisms underlying GVD formation are unknown. We assessed the prevalence and distribution of GVD in cases with TDP-43-related frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic lateral sclerosis (ALS-TDP). Consecutively autopsied cases with FTLD/ALS-TDP and C9orf72 mutations (FTLD/ALS-C9;N = 29), cases with FTLD/ALS-TDP without C9orf72 mutations (FTLD/ALS-nonC9;N = 46), and age-matched healthy controls (N = 40) were studied. The prevalence of GVD was significantly higher in the FTLD/ALS-C9 cases (26/29 cases) than in the FTLD/ALS-nonC9 cases (15/46 cases; Fisher exact test;p 
Source: Acta Neuropathologica - Category: Neurology Source Type: research

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CONCLUSIONS: Our results support the consensus that the R47H variant is significantly associated with AD. However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases. PMID: 31513029 [PubMed - as supplied by publisher]
Source: Alzheimer Disease and Associated Disorders - Category: Psychiatry Tags: Alzheimer Dis Assoc Disord Source Type: research
Pathogenic mechanisms of T cells in several central nervous system (CNS) disorders are well-established. However, more recent studies have uncovered compelling beneficial roles of T cells in neurological diseases, ranging from tissue protection to regeneration. These divergent functions arise due to the diversity of T cell subsets, particularly CD4+ T cells. Here, we review the beneficial impact of T cell subsets in a range of neuroinflammatory and neurodegenerative diseases including multiple sclerosis, Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, stroke, and CNS trauma. Both T cell-secreted me...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This article is categorized under: Nervous System Development> Flies Signaling Pathways> Cell Fate Signaling Nervous System Development> Vertebrates: General Principles
Source: Wiley Interdisciplinary Reviews: Developmental Biology - Category: Biology Authors: Tags: FOCUS ARTICLE Source Type: research
Authors: Kounakis K, Tavernarakis N Abstract The cytoskeleton consists of filamentous protein polymers that form organized structures, contributing to a multitude of cell life aspects. It includes three types of polymers: the actin microfilaments, the microtubules and the intermediate filaments. Decades of research have implicated the cytoskeleton in processes that regulate cellular and organismal aging, as well as neurodegeneration associated with injury or neurodegenerative disease, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Amyotrophic Lateral Sclerosis, or Charcot Marie Tooth diseas...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
Authors: Xiong H, Tuo QZ, Guo YJ, Lei P Abstract Iron has been proposed to be responsible for neuronal loss in several diseases of the central nervous system, including Alzheimer's disease (AD), Parkinson's disease (PD), stroke, Friedreich's ataxia (FRDA), multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS). In many diseases, abnormal accumulation of brain iron in disease-affected area has been observed, without clear knowledge of the contribution of iron overload to pathogenesis. Recent evidences implicate that key proteins involved in the disease pathogenesis may also participate in cellular iron metabol...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Abstract Neurodegenerative diseases are progressive and uncontrolled gradual loss of motor neurons function or death of neuron cells in the central nervous system (CNS) and the mechanisms underlying their progressive nature remain elusive. There is urgent need to investigate therapeutic strategies and novel treatments for neural regeneration in disorders like Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS). Currently, the development and identification of pluripotent stem cells enabling the acquisition of a large number of neural cells ...
Source: Current Stem Cell Research and Therapy - Category: Stem Cells Authors: Tags: Curr Stem Cell Res Ther Source Type: research
Publication date: Available online 21 August 2019Source: Molecular and Cellular NeuroscienceAuthor(s): Ju Gao, Luwen Wang, Tingxiang Yan, George Perry, Xinglong WangAbstractGenetic mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Importantly, TDP-43 proteinopathy, characterized by aberrant phosphorylation, ubiquitination, cleavage or nuclear depletion of TDP-43 in neurons and glial cells, is a common prominent pathological feature of various major neurodegenerative diseases including ALS, FTD, and Alzheimer's disease (AD). Although the pathomechan...
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
Authors: Vinaiphat A, Sze SK Abstract Introduction: Extracellular vesicles (EVs) released by neural cells play a crucial role in intracellular communication in both physiological and pathological states. Recent studies have shown that the neuropathogenic manifestation of many progressive nervous system diseases including Parkinson's disease (PD), Alzheimer's diseases (AD), and amyotrophic lateral sclerosis (ALS). These diseases are frequently found to be associated with the accumulation of misfolded proteins, exploit EVs for the spread of aggregates to naive cells in a prion-like mechanism. Therefore, characterizat...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
iad Fajloun Apitherapy is an alternate therapy that relies on the usage of honeybee products, most importantly bee venom for the treatment of many human diseases. The venom can be introduced into the human body by manual injection or by direct bee stings. Bee venom contains several active molecules such as peptides and enzymes that have advantageous potential in treating inflammation and central nervous system diseases, such as Parkinson’s disease, Alzheimer’s disease, and amyotrophic lateral sclerosis. Moreover, bee venom has shown promising benefits against different types of cancer as well as ant...
Source: Molecules - Category: Chemistry Authors: Tags: Review Source Type: research
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