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Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

19 Nov 2019

Abstract excerpt

Essential tremor is one of the most common movement disorders. Despite its high prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to now, only a few genes/loci have been identified, but these genes have not been replicated in other essential tremor families or cohorts. Here we report a genetic study in a cohort of 197 Chinese pedigrees clinically diagnosed with essential...

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PMID: 31819945
DOI: 10.1093/brain/awz372

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