A distinct genotype of the rs12608932 variant in amyotrophic lateral sclerosis


  • For patients with amyotrophic lateral sclerosis (ALS), those who carry the C/C genotype of the rs12608932 variant in UNC13A gene exhibit a distinct clinical pattern and shorter survival.

Why this matters?

  • rs12608932, a variant of the UNC13A gene, may manifest as a distinct phenotype of ALS. The clinical and MRI features of patients carrying this variant should be further characterized.

  • The findings of this study can potentially be utilized as a predictor of prognosis. It will also help to refine patient selection and risk stratification for clinical trials.