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NEK1 gene mutations found to drive ALS in new study

Mutations in the gene NEK1, a major genetic cause of amyotrophic lateral sclerosis (ALS), may work to drive the disease by destabilizing the structure of nerve fibers and disrupting the movement of molecules inside nerve cells, according to a new study. The findings, which show for the first time how…

Diarrhea a barrier to using common ALS medication: Surveys

Note: This story was updated Aug. 22, 2023, to correct there are four ALS approved therapies widely available in the U.S. Diarrhea associated with a common amyotrophic lateral sclerosis (ALS) treatment could be a substantial barrier to complying with the medication, according to surveys by Napo Pharmaceuticals. While…

ALS survival benefits with Radicava to be studied as part of collaboration

Mitsubishi Tanabe Pharma Canada (MTP-CA) is teaming up with the Canadian Neuromuscular Disease Registry (CNDR) in Canada’s first real-world, evidence-generating study of Radicava (edaravone) in amyotrophic lateral sclerosis (ALS). Data are expected to provide real-life insights into the survival benefits of Radicava in the progressive neurodegenerative…

Survival in sporadic ALS linked to autophagy protein p62

Increased accumulation of p62, a protein involved in a cellular recycling process called autophagy, in the spinal cord is associated with worse survival outcomes in people with sporadic amyotrophic lateral sclerosis (ALS), a study revealed. Autophagy is the cellular process responsible for breaking down proteins and other complex molecules…

Genetic factors influencing ALS survival identified in Japanese study

Researchers have identified new genetic variants that might influence survival among sporadic amyotrophic lateral sclerosis (ALS) patients in Japan. Genetic analyses in more than 1,000 ALS patients uncovered that small changes in the FGF1, THSD7A, and LRP1 genes could affect patients’ prognosis. In patient-derived nerve cells, the identified variants led…