Novel Gene Targets Associated with Amyotrophic Lateral Sclerosis and Methods of Use Thereof

摘要

Novel gene targets and methods of use thereof for the diagnosis and treatment of Amyotrophic Lateral Sclerosis are provided.

主权项

1. A method for predicting an increased risk of an individual for developing amyotrophic lateral sclerosis (ALS) disease, said method comprising: obtaining a nucleic acid sample encoding EWSR1 from said individual and determining whether or not said EWSR1 comprises a mutation selected from the group consisting of
i) a missense mutation in exon 16 at 1532 G>C causing a Gly511Ala alteration, and ii) a missense mutation in exon 17 at 1655 C>T causing a Pro522Leu alteration, relative to wild-type EWSR1 encoding nucleic acids, wherein the presence of at least one mutation in said EWSR1 encoding nucleic acid when compared to wild type EWSR1 encoding nucleic acids obtained from patients not having ALS is indicative of an increased risk of ALS.