{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:03:53Z","timestamp":1790964233645,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,2,4]],"date-time":"2014-02-04T00:00:00Z","timestamp":1391472000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Huntington disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>), an autosomal dominant disorder involving <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic>, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat within the gene. The prevalence of <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> is known for Europeans but has not been studied in the Israeli population. Between 2006 and 2011 we diagnosed in our adult genetics clinic ten <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> probands, nine of whom were Caucasus Jews (<jats:styled-content style=\"fixed-case\">CJ<\/jats:styled-content>) (Azerbaijani), and one Ashkenazi Jewish. We performed haplotype analysis to look for evidence of a founder mutation, and found that of the nine <jats:styled-content style=\"fixed-case\">CJ<\/jats:styled-content>, eight shared the same haplotype that was compatible with the <jats:styled-content style=\"fixed-case\">A1<\/jats:styled-content> haplogroup. We calculated the coalescence age of the mutation to be between 80 and 150\u2009years. Ninety percent of our <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> patients are <jats:styled-content style=\"fixed-case\">CJ<\/jats:styled-content>, as are 27% of the <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> patients in Israel, although the <jats:styled-content style=\"fixed-case\">CJ<\/jats:styled-content> comprise only 1.4% of the Israeli population. Our findings suggest a higher prevalence of <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> among <jats:styled-content style=\"fixed-case\">CJ<\/jats:styled-content> compared to the general Israeli population and are consistent with a recent founder mutation. We recommend a higher degree of suspicion for <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> in <jats:styled-content style=\"fixed-case\">CJ<\/jats:styled-content> with subtle clinical findings.<\/jats:p>","DOI":"10.1111\/cge.12344","type":"journal-article","created":{"date-parts":[[2014,1,9]],"date-time":"2014-01-09T13:34:52Z","timestamp":1389274492000},"page":"167-172","source":"Crossref","is-referenced-by-count":8,"title":["Founder mutation for Huntington disease in Caucasus Jews"],"prefix":"10.1111","volume":"87","author":[{"given":"O.","family":"Melamed","sequence":"first","affiliation":[{"name":"The Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Hospital Petah Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. M.","family":"Behar","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Hospital Petah Tikva Israel"},{"name":"Molecular Medicine Laboratory Rambam Health Care Campus Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bram","sequence":"additional","affiliation":[{"name":"Van Leer Institute, Jerusalem and James Madison College of Public Affairs Michigan State University East Lansing MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Magal","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Hospital Petah Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Pras","sequence":"additional","affiliation":[{"name":"The Danek Gartner Institute of Human Genetics Sheba Medical Center Tel Hashomer Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Reznik\u2010Wolf","sequence":"additional","affiliation":[{"name":"The Danek Gartner Institute of Human Genetics Sheba Medical Center Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z. U.","family":"Borochowitz","sequence":"additional","affiliation":[{"name":"The Simon Winter Institute for Human Genetics Bnai\u2010Zion Medical Center Haifa Israel"},{"name":"Rappaport Faculty of Medicine and Research Institute Technion\u2010Israeli Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Davidov","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Hospital Petah Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Mor\u2010Cohen","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"},{"name":"Amalia Biron Research Institute of Thrombosis and Hemostasis Sheba Medical Center Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. N.","family":"Baris","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute, Rabin Medical Center Beilinson Hospital Petah Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-40"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-398"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00668.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.10.1535"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00194305"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.02.003"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/321279"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/18.6.894"},{"key":"e_1_2_7_10_1","first-page":"147","volume-title":"Russian Jews on three continents\u00a0\u2013\u00a0migration and resettlement","author":"Tults M","year":"1997"},{"key":"e_1_2_7_11_1","unstructured":"BramC.Ethnic categorization and cultural diversity: \u201cA view from the margins\u201d: Caucasus Jews between Europe and Asia. PhD Dissertation the Hebrew University of Jerusalem 2008."},{"key":"e_1_2_7_12_1","first-page":"43","article-title":"Immigrant Jews of the Caucasus in New York and Moscow: ethno\u2010cultural identity and community organization","volume":"13","author":"Bram C","year":"2009","journal-title":"Sociol Pap"},{"key":"e_1_2_7_13_1","unstructured":"MagidDL. Everey na yuz'nakh Rossia Veiposk I: Everei na Kavkaze Istoricheskii ocherk. 1920. Cited in: Altshuler M. The Jews of the Eastern Caucasus: the history of the Mountain Jews from the beginning of the nineteenth century. Jerusalem: Ben Zvi Institute for the study of Jewish communities of the East\u00a0\u2013\u00a0the Hebrew University of Jerusalem 1990: 43 (Hebrew)."},{"key":"e_1_2_7_14_1","unstructured":"OlimBeYishuvim(immigrants in towns\/municipalities\u00a0\u2013\u00a0table) Israel Ministry for Immigrant Absorption 2004."},{"key":"e_1_2_7_15_1","unstructured":"BramC.Shaping group identity during a migration process: Caucasus Jews and the Importance of \u201cinner\u201d diversity. Peamim2007: 111\u2013112 pp. 145\u2013185 (Hebrew)."},{"key":"e_1_2_7_16_1","volume-title":"Visibility in immigration: body, gaze, pepresentations","author":"Bram C.","year":"2010"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0002062"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09103"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.10.1279"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.1.1.97"},{"issue":"10","key":"e_1_2_7_21_1","first-page":"2534","article-title":"Population\u2010demographic and clinico\u2010genetic characteristics of Huntington chorea in one region of Azerbaijan","volume":"22","author":"Kozlova SI","year":"1986","journal-title":"Genetika"},{"key":"e_1_2_7_22_1","unstructured":"AltshulerM.The Jews of the Eastern Caucasus: the history of the Mountain Jews from the beginning of the nineteenth century. Jerusalem: Ben Zvi Institute for the study of Jewish communities of the East\u00a0\u2013\u00a0the Hebrew University of Jerusalem 1990: 44\u201347 147\u2013149 (Hebrew)."},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.229"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12344","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T17:18:27Z","timestamp":1696353507000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,4]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1111\/cge.12344"],"URL":"https:\/\/doi.org\/10.1111\/cge.12344","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,4]]}}}