Rare homozygous genetic variants in amyotrophic lateral sclerosis

Takeaway

  • It is likely that rare mutations in recessive alleles contribute to the overall amyotrophic lateral sclerosis (ALS) phenotype, highlighting the complex and heterogeneous nature of disease.

Why this matters ?

  • Identifying underlying homozygous mutations may help to explain the early onset of disease in some patients and could help to identify those at risk.