{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T11:55:52Z","timestamp":1773921352904,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,2]]},"abstract":"<jats:p>Idiopathic torsion dystonia (ITD) has long been considered to be genetically determined, but the pattern of inheritance has been unclear. It has been suggested that inheritance may differ in Jews and non-Jews. In the present study, data gathered in a nationwide survey of ITD in Israel were analysed. Between 1969 and 1980, 47 patients were collected, of whom 40 were of European origin. In these European Jews, the ITD frequency was about 1:23 000 live births, which was five-fold greater than in Jews of Afro-Asian origin. Assuming that all cases fit the same genetic model, an X linked or a simple autosomal recessive model of inheritance did not agree well with our data. An autosomal dominant model with low penetrance could have accounted for our observations and would yield an ITD gene frequency in European Jews of 3 to 4:100 000. In view of the increased ages of their fathers, the isolated cases may have included some new mutations. Multifactorial inheritance was also possible. However, it may be inappropriate to assume that all cases have the same genetic basis, or even that all are inherited.<\/jats:p>","DOI":"10.1136\/jmg.21.1.13","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"13-20","source":"Crossref","is-referenced-by-count":65,"title":["Inheritance of idiopathic torsion dystonia among Jews."],"prefix":"10.1136","volume":"21","author":[{"given":"N","family":"Zilber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A D","family":"Korczyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Kahana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Fried","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Alter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,2,1]]},"reference":[{"key":"ref_1","article-title":"ABLE 1 Frequency of ITD by birthplace of mother in the Jewish population bor n in Isr ael","year":"1949","unstructured":"ABLE 1 Frequency of ITD by birthplace of mother in the Jewish population bor n in Isr ael (1949-1959)."},{"issue":"42","key":"ref_2","article-title":"Dystonia musculorum deformans: a gznetic and clinical population study of 121 cases","volume":"1966","author":"T, Larsson T.Sjogren","unstructured":"Larsson T. Sjogren T. Dystonia musculorum deformans: a gznetic and clinical population study of 121 cases. Ac ta Neulrol Scanid 1966;42:suppl 17.","journal-title":"Ac ta Neulrol Scanid"},{"key":"ref_3","first-page":"27","article-title":"The torsion dystonias: some genetic and psychiatric implications","volume":"3","author":"Eldridge, R.; Koerber, T.","year":"1971","unstructured":"Eldridge R, Koerber T. The torsion dystonias: some genetic and psychiatric implications. Psychiatric Forum 1971;3:27-33.","journal-title":"Psychiatric Forum"},{"key":"ref_4","first-page":"231","article-title":"Torsion dystonia: autosomal recessive form","volume-title":"diseases among Jews","author":"Eldridge, R.; Koerber, T.","year":"1979","unstructured":"Eldridge R, Koerber T. Torsion dystonia: autosomal recessive form. In: Goodman RM, Motulsky AG, eds. Genetic diseases among Jews. New York: Raven Press, 1979:231-51."},{"issue":"1","key":"ref_5","first-page":"15","article-title":"Differences in torsion dystonia among Israeli ethnic groups","volume":"14","author":"Alter, M.; Kahana, E.; Feldman, S.","year":"1976","unstructured":"Alter M, Kahana E, Feldman S. Differences in torsion dystonia among Israeli ethnic groups. Adv Neurol 1976;14:1 15-20.","journal-title":"Adv Neurol"},{"key":"ref_6","article-title":"Statistical Abstract of Israel Nos 1-17. Central Bureau of Statistics, Jerusalem, The Government Printer, 1950-1966; and personal communication from the Israel Central Bureau of Statistics","unstructured":"Statistical Abstract of Israel Nos 1-17. Central Bureau of Statistics, Jerusalem, The Government Printer, 1950-1966; and personal communication from the Israel Central Bureau of Statistics."},{"key":"ref_7","article-title":"Human genetics","author":"McKusick, V.A.","year":"1969","unstructured":"McKusick VA. Human genetics. Englewood Cliffs, NJ: Prentice-Hall, 1969."},{"key":"ref_8","first-page":"317","article-title":"The rate of consanguinity in the communities of Israel. Bull Res Counc Israel (Exp MJ)","volume":"58","author":"Goldschmidt, E.; Ronen, A.","year":"1956","unstructured":"Goldschmidt E, Ronen A. The rate of consanguinity in the communities of Israel. Bull Res Counc Israel (Exp MJ) 1956;58:317-8."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1136\/jmg.12.1.12","article-title":"A genetic study of torsion dystonia","volume":"12","author":"Bundey, S.; Harrison, M.J.G.; Marsden, C.D.","year":"1975","unstructured":"Bundey S, Harrison MJG, Marsden CD. A genetic study of torsion dystonia. J Med Genet 1975;12:12-9.","journal-title":"J Med Genet"},{"key":"ref_10","first-page":"153","article-title":"Paternal age effect in isolated juvenile torsion dystonia","volume":"14","author":"Bundey, S.; Harrison, M.J.G.; Marsden, C.D.","year":"1976","unstructured":"Bundey S, Harrison MJG, Marsden CD. Paternal age effect in isolated juvenile torsion dystonia. Adv Neurol 1976;14:153-5.","journal-title":"Adv Neurol"},{"key":"ref_11","first-page":"189","article-title":"Psychological studies in dystonia musculorum deformans","volume":"14","author":"Riklan, M.; Cullinan, T.; Cooper, I.S.","year":"1976","unstructured":"Riklan M, Cullinan T, Cooper IS. Psychological studies in dystonia musculorum deformans. Adv Neurol 1976; 14:189-200.","journal-title":"Adv Neurol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.1.13","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:18:54Z","timestamp":1760761134000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.1.13"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,2]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1984,2,1]]},"published-print":{"date-parts":[[1984,2]]}},"alternative-id":["10.1136\/jmg.21.1.13"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.1.13","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,2]]}}}