While phenotypic heterogeneity and population-specific variant distributions were observed, these findings remain descriptive due to the small sample size.<h4>Conclusion</h4>This regional case series provides a descriptive overview of <i>NEK1</i> variants in a Chinese ALS cohort and offers preliminary exploratory evidence consistent with reduced peripheral <i>NEK1</i> protein levels in variant carriers. The gene discussed is NEK1; the disease is amyotrophic lateral sclerosis.