20Nov 2023
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients

The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients

A study evaluated the prognostic significance of systematic screening for rare deleterious mutations in genes associated with Amyotrophic Lateral Sclerosis (ALS) and abnormal inflammatory responses. Analyzing 494 patients in a discovery cohort and 69 in a validation cohort, with 4961 population-matched healthy subjects as controls, whole exome sequencing identified ALS variants in 8.1% and novel ALS variants in 15.2% of patients. Patients with ALS variants experienced faster disease progression, and a prognostic model combining genetic and clinical factors demonstrated improved accuracy in predicting outcomes. Rare deleterious mutations in immune-implicated genes showed minimal impact on ALS clinical trajectories.

  • #neurology

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