A genetic locus associated with essential tremor in Chinese families

Takeaway

  • An autosomal dominant inheritance pattern of a GGC repeat in the 5’ region of the NOTCH2NLC gene was identified in 11 families with essential tremor (ET).

Why this matters

    The abnormal GGC repeat in NOTCH2NLC was associated with ET, but only present in 5.6% of the families with a history of ET, adding to the body of evidence that ET is a family of diseases with a wide range of genetic and phenotypic presentations.