A study coordinated by Dr. Josep Gámez, head of the Vall d'Hebron Peripheral Nervous System research group (VHIR) and coordinator of the CSUR Rare Neuromuscular Diseases, the CSUR Hereditary Ataxia and Paraplegia, and the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) from Vall d'Hebron Hospital has published a study describing and characterizing for the first time a mutation associated with amyotrophic lateral sclerosis (ALS) quite common in the United States, but so far it has not been had a record in the State. The study was published in the journal Frontiers in Genetics.ALS is a neurodegenerative disorder that results in progressive loss of muscle and paralysis. Life expectancy for the nearly 4,000 people suffering from the disease in Catalonia is less than 5 years old, but this can be extended if they decide to receive mechanical ventilation and enteral nutrition.About 10% of ALS cases are familial (fELA), and genetic factors are a major cause.Although ALS is a disease with high genetic heterogeneity, it is known that gene mutations encoding the superoxide dismutase enzyme (SOD1) are the second most common cause of the disease. Over 186 mutations in the SOD1 gene have been described. And among all these mutations there are two that are the predominant.This study reports the first genotyping in a Spanish family of one of the major mutations related to ALS (A4V). "The P.A5V-SOD1 mutation accounts for 40% of the ELA-induced mutations in the United States. It has also been described in very small families in Europe, but never before in the Spanish population," says Dr. Gámez.In some cases, the resulting mutation type and phenotype are strongly correlated. The study found that "the A4V-SOD1 mutation causes lower motor neuron involvement, rapid progression, less than two years survival time and no cognitive impairment," he adds.The uniformity of the phenotype associated with this mutation has been very attractive to the pharmaceutical industry for testing the different modalities of gene therapy in this subgroup of patients. Preliminary results in phase I / II confirm that intrathecal administration of antisense oligonucleotide (ASO) is able to reduce levels of SOD1 protein by delaying disease progression in carriers of the A4V-SOD1 mutation.