“Early Genetic Screening in ALS Patients: Prevalence of Pathogenic Variants and Need for Integration into Diagnostic Protocols”

https://pubmed.ncbi.nlm.nih.gov/38112783

This study highlights the importance of early genetics screening in ALS patients, revealing that 14.43% carry pathogenic variants, with a higher prevalence in familial cases, and stresses the need to integrate comprehensive genetic testing into diagnostic protocols for this complex disease.