Identification of a candidate gene for a familial dystonic tremor disorder

Takeaway

  • A large genomic duplication was identified in members of an Indian family with symptoms consistent with dystonic tremor, and it contained the LINGO1 gene which has previously been associated with essential tremor.

Why this matters ?

  • These results identify LINGO1 as a candidate gene for a dystonic tremor disorder, indicating it has a role in multiple types of tremor disorders and suggesting increased expression level from duplication as a pathogenic mechanism.