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Sant Pau researchers discover a new gene that causes ALS - EurekAlert
Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist Dr. Ricard Rojas-García, have identified a new mutation in the ARPP21 gene that could be the cause of Amyotrophic Lateral Sclerosis (ALS), a devastating neurodegenerative disease. Specifically, it is a shared mutation (c.1586C>T; p.Pro529Leu) in the ARPP21 gene that codes for an RNA-binding protein and has been found in a total of 10 ALS patients from 7 unrelated families in a region in the southeast of the autonomous community of La Rioja.
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