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In a six-generation family with both essential tremor and Parkinson disease, we identified a rare missense mutation of\n                    <jats:italic>HTRA2<\/jats:italic>\n                    as the causative allele. Family members homozygous for this allele were more severely affected than those heterozygous for this allele. The same mutation had been associated with Parkinson characteristics in mouse mutants and with Parkinson disease in some, but not all, epidemiologic studies. Our results suggest that\n                    <jats:italic>HTRA2<\/jats:italic>\n                    may be responsible for essential tremor in some families and that homozygosity for damaging alleles of\n                    <jats:italic>HTRA2<\/jats:italic>\n                    may be responsible for Parkinson disease.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1419581111","type":"journal-article","created":{"date-parts":[[2014,11,24]],"date-time":"2014-11-24T23:48:51Z","timestamp":1416872931000},"page":"18285-18290","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":127,"title":["Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease"],"prefix":"10.1073","volume":"111","author":[{"given":"Hilal","family":"Unal Gulsuner","sequence":"first","affiliation":[{"name":"Institute of Materials Science and Nanotechnology, National Nanotechnology Research Center (UNAM), and"},{"name":"Departments of Medicine and of Genome Sciences, University of Washington, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suleyman","family":"Gulsuner","sequence":"additional","affiliation":[{"name":"Departments of Medicine and of Genome Sciences, University of Washington, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Nazli","family":"Mercan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, Ankara University, Ankara 06100, Turkey;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onur Emre","family":"Onat","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, Bilkent University, Ankara 06800, Turkey;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Walsh","sequence":"additional","affiliation":[{"name":"Departments of Medicine and of Genome Sciences, University of Washington, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hashem","family":"Shahin","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, Bethlehem University, Bethlehem 92248, Palestinian Authority;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming K.","family":"Lee","sequence":"additional","affiliation":[{"name":"Departments of Medicine and of Genome Sciences, University of Washington, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Okan","family":"Dogu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Faculty of Medicine, Mersin University, Mersin 33343, Turkey; 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