NOTCH2NLC GGC repeat expansions are an underdiagnosed cause of inherited neuropathy in a Taiwanese cohort

Takeaway

  • More than 10% of Taiwanese people with genetically undiagnosed Charcot-Marie-Tooth disease have the GGC repeat expansion in NOTCH2NLC.

Why this matters

  • The GGC repeat expansion in the 5' untranslated region of NOTCH2NLC has been identified as the cause of neuronal intranuclear inclusion disease.

  • The findings of this unique study suggest that testing NOTCH2NLC GGC repeat expansions should be considered in people with inherited axonal neuropathy of unknown cause.