Using patient-derived cells, we have shown that ALS-associated genetic variation within CAV1/CAV2 enhancers and CAV1 coding sequence reduces CAV1/CAV2 expression and disrupts MLR, which is contingent with impaired neurotrophic signaling and consequently neurodegeneration (Sawada et al., 2019). This evidence concerns the gene CAV1 and amyotrophic lateral sclerosis.