Search results for "Amyotrophic lateral sclerosis ."
showing 8 items of 8 documents
Therapeutic alternative of the ketogenic Mediterranean diet to improve mitochondrial activity in Amyotrophic Lateral Sclerosis (ALS): A Comprehensive…
2019
Abstract Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease which is pathogenically based on the mitochondrial alteration of motor neurons, causing progressive neuron death. While ALS is characterized by enormous oxidative stress, the Mediterranean diet has been seen to have high antioxidant power. Therefore, the aim of this study is to determine how the Mediterranean diet can improve mitochondrial activity, establishing the specific nutrients and, in addition, observing the pathogenic mechanisms related to the disease that would achieve this improvement. To this end, a comprehensive review of the literature was performed using PubMed. KBs have been observed to ha…
Accuracy of death certificates for amyotrophic lateral sclerosis varies significantly from north to south of Italy: Implications for mortality studies
2004
<i>Objective:</i> To evaluate the accuracy of death certificates (DCs) for amyotrophic lateral sclerosis (ALS) in different parts of Italy. Studies based on DC diagnosis for ALS have shown a reduced mortality comparing northern with southern Italy. These data are in contrast with results from other surveys on the incidence of ALS performed in Italy and other countries. <i>Methods:</i> Archives of neurological clinics from northern (Milano, Monza, Pavia, and Bologna) and southern Italy including islands (Napoli, Sassari, Palermo, and Messina) were searched for patients discharged with a diagnosis of ALS in the period 1970–1995. Subjects affected by definite/probable A…
CHARACTERIZATION OF MOLECULAR ISOFORMS AND ROLE OF THE SURVIVAL MOTOR NEURON (SMN) IN MOTOR NEURONS DISEASES.
2014
La sclerosi Laterale Amiotrofica (SLA) e l'Atrofia Muscolare Spinale (SMA) sono malattie neurodegenerative caratterizzate dalla perdita progressiva dei motoneuroni. La SMA è generalmente causata da delezione in omozigosi o mutazione del gene SMN, che codifica per una proteina ubiquitaria e multifunzionale, altamente espressa nel midollo spinale. La SLA è una malattia che può essere familiare o sporadica.Il 20% dei casi familiari è causato da una mutazione dominante nel gene SOD1. Inoltre ci sono altri geni coinvolti in questa malattia, tra cui FUS e TDP43. Lo scopo principale della tesi è quello di studiare il gene, le isoforme, la localizzazione subcellulare ed i partners molecolari di SMN…
ALS-linked FUS mutations confer loss and gain of function in the nucleus by promoting excessive formation of dysfunctional paraspeckles
2019
Mutations in the FUS gene cause amyotrophic lateral sclerosis (ALS-FUS). Mutant FUS is known to confer cytoplasmic gain of function but its effects in the nucleus are less understood. FUS is an essential component of paraspeckles, subnuclear bodies assembled on a lncRNA NEAT1. Paraspeckles may play a protective role specifically in degenerating spinal motor neurons. However it is still unknown how endogenous levels of mutant FUS would affect NEAT1/paraspeckles. Using novel cell lines with the FUS gene modified by CRISPR/Cas9 and human patient fibroblasts, we found that endogenous levels of mutant FUS cause accumulation of NEAT1 isoforms and paraspeckles. However, despite only mild cytoplasm…
Advances on Cellular Clonotypic Immunity in Amyotrophic Lateral Sclerosis.
2022
Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease, characterized by the progressive degeneration of the upper and lower motor neurons in the cortex and spinal cord. Although the pathogenesis of ALS remains unclear, evidence concerning the role of the clonotypic immune system is growing. Adaptive immunity cells often appear changed in number, or in terms of their activation profiles, both peripherally and centrally; however, their role in ALS appears conflictive. Data from human and animal model studies, which are currently reported in the literature, show that each subset of lymphocytes and their mediators may mediate a protective or toxic mechanism in ALS, affecting both…
ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation…
2017
Background: Amyotrophic lateral sclerosis (ALS) shows a strong genetic basis, with SOD1, FUS, TARDBP, and C9ORF72 being the genes most frequently involved. This has allowed identification of asymptomatic mutation carriers, which may be of help in understanding the molecular changes preceding disease onset. Objectives: We studied the cellular expression of FUS protein and the effect of heat-shock-and dithiothreitol-induced stress in fibroblasts from FUS P525L mutation carriers, healthy controls, and patients with sporadic ALS. Methods: Western blots and immunocytochemistry were performed to study the subcellular localization of FUS protein. Control and stressed cells were double stained with…
TELEPHONE FOLLOW-UP FOR PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS
2007
The relentless evolution of amyotrophic lateral sclerosis (ALS), a severe neurodegenerative disorder of the upper and lower motoneurons, leads to an increasing level of disability. Most patients, during the course of the disease, become unable to attend the tertiary clinical care center and are thus prevented from enrolling in clinical trials or benefiting from specialized care and management. The main objective of this study was to verify whether the ALS functional rating scale (ALSFRS) could be reliably administered by telephone to patients, when unable to attend the ALS clinic, or to their caregivers. ALSFRS is a validated instrument that assesses the functional status and the disease pr…
Muscle Function Differences between Patients with Bulbar and Spinal Onset Amyotrophic Lateral Sclerosis. Does It Depend on Peripheral Glucose?
2021
Background: One of the pathogenic mechanisms of ALS disease is perturbed energy metabolism particularly glucose metabolism. Given the substantial difference in the severity and the prognosis of the disease, depending on whether it has a bulbar or spinal onset, the aim of the study was to determine metabolic differences between both types of ALS, as well as the possible relationship with muscle function. Materials and Methods: A descriptive, analytical, quantitative, and transversal study was carried out in hospitals and Primary Care centers in the region of Valencia, Spain. Fasting glucose and alkaline phosphatase (AP) levels in venous blood, muscle percentage, fat percentage, muscle streng…