NOTCH2NLC GGC repeat expansions are linked to sporadic essential tremor

Takeaway

  • NOTCH2NLC GGC repeat expansions are associated with sporadic essential tremor and long-term disease expression is erratic.

Why this matters

    The clinical and temporal relationship between neuronal intranuclear inclusion body disease and essential tremor has previously been unclear. These novel findings suggest that long-term follow-up is needed in people with neuronal intranuclear inclusion body disease who present with a pure essential tremor phenotype.