Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort

Abstract

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is an adult-onset, progressive, fatal neurodegenerative disorder characterized by progressive loss of motor neurons. Approximately 15% of individuals diagnosed with ALS have a known genetic variant that contributes to disease. Herein, we present clinical and genetic data of a large Greek ALS cohort. PATIENTS AND METHODS: were investigated using ExpansionHunter software, repeat-primed PCR and fragment analysis. RESULTS: . CONCLUSION: Our results reveal the distinct genetic profile of Greek ALS patients. These findings will have an impact on genetic counseling, the design of diagnostic gene panels for the Greek population and on genotype-specific therapeutic interventions. Understanding the genetic causes of ALS in different populations is becoming increasingly important, especially with the advent of personalized medicine.