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Familial essential tremor and idiopathic torsion dystonia are different genetic entities

1993; Lippincott Williams & Wilkins; Volume: 43; Issue: 11 Linguagem: Inglês

10.1212/wnl.43.11.2212

1526-632X

Alexandra Dürr, Giovanni Stévanin, C P Jedynak, Christiane Penet, Y. Agid, Alexis Brice,

Glycogen Storage Diseases and Myoclonus

Familia1 essential tremor (ET) is an autosomal dominant disorder presenting as an isolated postural tremor. Its frequent association with dystonia suggests that the two disorders might be pathogenically related. We report the exclusion of the DYTl locus on chromosome 9q32–34, responsible for idiopathic torsion dystonia (ITD), in two large ET families. We conclude that ET and ITD are distinct genetic disorders.