Search results for "Amyotrophic lateral sclerosis"

Corticobulbar tract involvement in amyotrophic lateral sclerosis. A transcranial magnetic stimulation study

1998

We investigated corticobulbar tract function by recording from the tongue and orofacial muscles and using transcranial magnetic stimulation (TMS) in 30 patients with amyotrophic lateral sclerosis (ALS) in order to improve the diagnostic yield in the detection of subclinical upper motor neuron (UMN) dysfunction. A UMN lesion was assumed when the peripheral conduction time and amplitude of the M-wave were within normal range and either the response to cortical stimulation was absent, or the central conduction time was delayed (> mean + 2.5 SD). Only two patients showed clinical evidence of UMN involvement in the cranial nerves, while TMS demonstrated corticobulbar tract dysfunction in the oro…

Oxidative Stress in Neurodegenerative Diseases: From a Mitochondrial Point of View

2019

Age is the main risk factor for a number of human diseases, including neurodegenerative disorders such as Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis, which increasing numbers of elderly individuals suffer. These pathological conditions are characterized by progressive loss of neuron cells, compromised motor or cognitive functions, and accumulation of abnormally aggregated proteins. Mitochondrial dysfunction is one of the main features of the aging process, particularly in organs requiring a high-energy source such as the heart, muscles, brain, or liver. Neurons rely almost exclusively on the mitochondria, which produce the energy required for most of the cel…

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…

Tumors preceding ALS onset and ALS: results from a case-control study.

2009

The ALS-FTLD continuum: clinical, genetic and neuropsychological aspects

Alexithymia, burden and resilience in ALS’ caregivers

2017

Living with a progressively disease such as Amyotrophic lateral sclerosis (ALS) has a strong impact on the people affected and on their relatives, who have to tackle the demanding duties of caring for and assisting them (Tramonti et al., 2014). Many factors modulate the levels of burden in ALS’ caregivers: disease related factors, personality related factors, enviromental factors. Dennison et al (2001) showed that alexithymia could to contribute to increasing distress in ALS’ caregivers, but there are very few studies on this. Other studies supporting the role of resilience such as protective factor (Ripamonti, 2015). The aim of the study is to assess the relationship between alexithymia, r…

Non-invasive management of an acute chest infection for a patient with ALS.

2003

We describe a man diagnosed with non-bulbar amyotrophic lateral sclerosis (ALS) who uses 24-h non-invasive ventilator at home, and assisted cough through the use of the mechanical insufflation-exsufflation (MAC) device (CoughAssist, J.H. Emerson). This was essential for the removal of bronchial secretions in order to provide successful non-invasive management (and indeed less suffering for the patient) during an acute respiratory tract infection with hypoxemia and failure of manually assisted cough.

Outcome and attitudes toward home tracheostomy ventilation of consecutive patients: a 10-year experience.

2008

Summary Objectives To describe survival, predictors of long-term outcome and attitudes in patients treated at home by tracheostomy-intermittent positive-pressure ventilation (TIPPV) for respiratory failure during a 10-year period (1995–2004). Methods Seventy-seven consecutive patients were treated by TIPPV at home. Patients were divided into three groups: neuromuscular, pulmonary, and non-pulmonary patients. Effects of TIPPV on survival, factors influencing outcome after TIPPV, and attitudes of patients and caregivers regarding mechanical ventilation were studied. Results Forty-one patients (53%) were neuromuscular, 19 (25%) were affected by pulmonary diseases, and 17 (22%) by non-pulmonary…

Hsp70 and Its Molecular Role in Nervous System Diseases

2011

Heat shock proteins (HSPs) are induced in response to many injuries including stroke, neurodegenerative disease, epilepsy, and trauma. The overexpression of one HSP in particular, Hsp70, serves a protective role in several different models of nervous system injury, but has also been linked to a deleterious role in some diseases. Hsp70 functions as a chaperone and protects neurons from protein aggregation and toxicity (Parkinson disease, Alzheimer disease, polyglutamine diseases, and amyotrophic lateral sclerosis), protects cells from apoptosis (Parkinson disease), is a stress marker (temporal lobe epilepsy), protects cells from inflammation (cerebral ischemic injury), has an adjuvant role i…

The Link between Oxidative Stress, Redox Status, Bioenergetics and Mitochondria in the Pathophysiology of ALS

2021

Amyotrophic lateral sclerosis (ALS) is the most common neurodegenerative disease of the motor system. It is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and paralysis. ALS is incurable and has a bleak prognosis, with median survival of 3–5 years after the initial symptomatology. In ALS, motor neurons gradually degenerate and die. Many features of mitochondrial dysfunction are manifested in neurodegenerative diseases, including ALS. Mitochondria have shown to be an early target in ALS pathophysiology and contribute to disease progression. Disruption of their axonal transport, excessive generation of reactive oxygen species, disruptio…