{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:15:02Z","timestamp":1763036102153,"version":"build-2065373602"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,10,6]],"date-time":"2005-10-06T00:00:00Z","timestamp":1128556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C\u2192G) in exon 7 of the <jats:italic>hematopoietic\u2010specific protein 1 binding protein 3<\/jats:italic> gene (<jats:italic>HS1\u2010BP3<\/jats:italic>) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C\u2192G variant in exon 7 of the <jats:italic>HS1\u2010BP3<\/jats:italic> gene by a <jats:italic>Bse<\/jats:italic>YI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild\u2010type allele. The 828C\u2192G genetic variant in the <jats:italic>HS1\u2010BP3<\/jats:italic> gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The <jats:italic>HS1\u2010BP3<\/jats:italic> gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20692","type":"journal-article","created":{"date-parts":[[2005,10,6]],"date-time":"2005-10-06T20:47:37Z","timestamp":1128631657000},"page":"306-309","source":"Crossref","is-referenced-by-count":24,"title":["<i>HS1\u2010BP3<\/i> gene variant is common in familial essential tremor"],"prefix":"10.1002","volume":"21","author":[{"given":"Joseph J.","family":"Higgins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roni 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