Recent advances in the role of repeat expansions in and Italian cohort with amyotrophic lateral sclerosis

  • The association between repeat expansions of genes and amyotrophic lateral sclerosis (ALS) demonstrates variability amongst different ethnic backgrounds. Hence, the current study aimed at identifying the involvement of repeat NOTCH2NLC GGC alleles in an Italian cohort (n=385, mean age at onset: 60.5 years) with ALS.
  • Nearly 93% (357 of 385 patients) of cases were sporadic, and majority of patients (71.8%) presented with spinal onset. Lack of a sawtooth tail pattern on repeat-primed polymerase chain reaction (RP-PCR) ruled out abnormal expansion in NOTCH2NLC GGC repeats.
  • According to the authors, repeat NOTCH2NLC GGC alleles are not expanded or rare in people with ALS of Italian ethnicity.