Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease
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Essential tremor (ET) is a common neurologic disorder, and family studies frequently show autosomal dominant inheritance.1 Recently, an A265G variant in the HS1 binding protein 3 gene (HS1BP3) was reported in two families with ET, including one family from our center.2,3 As some phenotypes of ET overlap with those of Parkinson disease (PD),4 we explored the A265G variant in Caucasian ET as well as in patients with PD from North America.
Methods.
We studied 222 unrelated patients with ET (mean age at onset 58.1 ± 14.6 years; male/female: 114/108), 285 patients with PD (mean age at onset 59.2 ± 14.1 years; male/female: 144/141), and 132 normal control subjects (without family history of movement disorders; mean age at onset 60.1 ± 14.4 years; male/female: 68/64). The diagnosis of ET and PD was made according to common diagnostic criteria.5,6 All study subjects signed a consent form approved by the Baylor College of Medicine Institutional Review Board.
PCR restriction fragment length polymorphism assay were conducted3 using the following primer pair: 5′-TGCATGGTTCCATTTTCTCC-3′ …
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