Esposito, Sonia (2014) Physiopathology of ALS: from oxidative stress to RNA metabolism. Doctoral Thesis.
ALS is a progressive, degenerative disease characterized by selective death of motoneurons in brain and spinal cord. ALS is the most common motoneuron disease that in Sardinia affects 21 people per 100,000 inhabitants. Different ALS causative genes, including SOD1, FUS and TDP43 have been identified in both familial and sporadic ALS cases, suggesting a possible role of these proteins in both forms of the disease. Hypotheses on biology underlying both sporadic and familiar ALS outline a model in which non-competing mechanisms converge in various unsuccessful patterns to mediate motoneuron death. These progresses in understanding the pathological mechanisms in ALS have not been matched with an effective pharmacotherapy.
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