{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:48:14Z","timestamp":1789728494603,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,11,4]],"date-time":"2004-11-04T00:00:00Z","timestamp":1099526400000},"content-version":"vor","delay-in-days":2440,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[1998,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a family with early\u2010onset deafness and progressive dystonia exclusively involving males over two successive generations. There is also evidence of cognitive impairment and corticospinal tract involvement. The pedigree suggests an X\u2010linked inheritance. A similar family was originally described by Scribanu and Kennedy. Tranebjaerg et al. have recently reported two other families with linkage to Xq22 and also proposed a novel X\u2010linked candidate gene. These findings support the existence of a distinct neurodegenerative syndrome principally characterized by early\u2010onset deafness and progressive dystonia. Neuropathology of one case showed a mosaic pattern of neuronal loss and gliosis in the caudate and putamen suggesting that this pattern is not restricted to XDP or Lubag.<\/jats:p>","DOI":"10.1002\/mds.870130217","type":"journal-article","created":{"date-parts":[[2005,5,28]],"date-time":"2005-05-28T20:40:51Z","timestamp":1117312851000},"page":"303-308","source":"Crossref","is-referenced-by-count":25,"title":["X\u2010linked dystonia\u2010deafness syndrome"],"prefix":"10.1002","volume":"13","author":[{"given":"Michael W.","family":"Hayes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Ouvrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernest","family":"Somerville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G. L.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,11,4]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"137","article-title":"Torsion dystonia in Panay, Philippines","volume":"14","author":"Lee LV","year":"1976","journal-title":"Adv Neurol"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.9.1438"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.17.8245"},{"key":"e_1_2_1_5_2","first-page":"235","article-title":"Familial syndrome with dystonia, neural deafness and possible intellectual impairment","volume":"14","author":"Scribanu N","year":"1976","journal-title":"Adv Neurol"},{"key":"e_1_2_1_6_2","volume-title":"Mendelian inheritance in man","author":"McKusick VA.","year":"1992"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00208922"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.257"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-177"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.6.802"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870080328"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870070305"},{"key":"e_1_2_1_13_2","unstructured":"FactorSA BarronKD.Mosaic pattern of gliosis in the neostriatum of a North American man with craniocervical dystonia and parkinsonism.Mov Disord(in press)."},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1992.tb00707.x"},{"key":"e_1_2_1_15_2","first-page":"461","article-title":"Genetic homogeneity of Pelizaeus\u2010Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families","volume":"55","author":"Boespflug\u2010Tanguy O","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-257"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1310"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300127"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510454"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03166.x"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.18.6521"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870050204"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(90)90010-X"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.2.86"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.870130217","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.870130217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:09:55Z","timestamp":1760965795000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.870130217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,3]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1998,3]]}},"alternative-id":["10.1002\/mds.870130217"],"URL":"https:\/\/doi.org\/10.1002\/mds.870130217","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,3]]}}}