Novel GGC repeat expansion in NOTCH2NLC found in amyotrophic lateral sclerosis

Takeaway

  • Amyotrophic lateral sclerosis with GGC repeat expansion may be a distinct phenotype of neuronal intranuclear inclusion disease.

Why this matters

    Very few studies have investigated GGC repeats in amyotrophic lateral sclerosis cohorts. These novel findings help to clarify the pathogenic mechanism of amyotrophic lateral sclerosis and extend the known clinical spectrum of neuronal intranuclear inclusion disease.