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To the Editor:
Higgins et al.1 reported an association between essential tremor (ET) and a rare Ala265Gly variant of the HS1-BP3 gene located in the 2p24 chromosomal region.
We previously performed a genome-wide linkage study in seven American families with ET and identified one family having positive linkage to the 2p24 locus. Of 14 affected members of this family, none carried the Ala265Gly variant, as determined by sequencing of the HS1-BP3 coding region. In a second family, in which linkage to 2p24 could not be excluded, the Ala265Gly substitution was detected in 3 of 13 patients. Of 22 tested patients with ET from the remaining families, in which there was no linkage to 2p24, two had the Ala265Gly substitution.
In each family, there were affected members having additional amino acid altering substitutions in the HS1-BP3 gene, Pro296Leu …
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