{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:49:02Z","timestamp":1780354142732,"version":"3.54.1"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5726,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X\u2010linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2\u20133 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X\u2010linked spinocerebellar ataxia and X\u2010linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X\u2010linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.<\/jats:p>","DOI":"10.1002\/ajmg.1320340203","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:56:55Z","timestamp":1118537815000},"page":"155-158","source":"Crossref","is-referenced-by-count":17,"title":["Heterogeneity of X\u2010linked recessive (Spino)cerebellar ataxia with or without spastic diplegia"],"prefix":"10.1002","volume":"34","author":[{"given":"Sel\u00e7uk","family":"Apak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Memnune","family":"Y\u00fcksel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"\u00d6zmen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nur\u00e7in","family":"Saka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feyza","family":"Darendeliler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard","family":"Neuh\u00e4user","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(86)80012-2"},{"key":"e_1_2_1_3_1","first-page":"13","article-title":"Sex\u2010linked spastic paraplegia","volume":"71","author":"Baar HS","year":"1966","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_4_1","volume-title":"The Genetics of Neurological Disorders","author":"Baraitser M","year":"1982"},{"key":"e_1_2_1_5_1","first-page":"237","volume-title":"Humangenetik","author":"Becker PE","year":"1966"},{"key":"e_1_2_1_6_1","first-page":"141","volume-title":"Treasury of Huma. Inheritance","author":"Bell J","year":"1939"},{"key":"e_1_2_1_7_1","volume-title":"Genetics and Neurology","author":"Bundey S","year":"1985"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1977.tb07968.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.4.602"},{"key":"e_1_2_1_10_1","volume-title":"The Spinocerebellar Degenerations","author":"Greenfield JG","year":"1954"},{"key":"e_1_2_1_11_1","volume-title":"The Hereditary Ataxias and Related Disorders","author":"Harding EA","year":"1984"},{"key":"e_1_2_1_12_1","first-page":"83","article-title":"A sex\u2010linked recessive form of spastic paraplegia","volume":"14","author":"Johnston AW","year":"1962","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"A160","article-title":"Linkage analysis of several cloned DNA sequences with the locus of X\u2010linked recessive paraplegia","volume":"37","author":"Kenwrick S","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.8.4.261"},{"key":"e_1_2_1_15_1","first-page":"88","volume-title":"Aktuelle Neurop\u00e4diatrie","author":"Neuh\u00e4user G","year":"1977"},{"key":"e_1_2_1_16_1","first-page":"4","article-title":"X\u2010linked hereditary spastic paraplegia","volume":"125","author":"Raggio JF","year":"1973","journal-title":"J Louisiana State Med Soc"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.8.1344"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1970.tb01639.x"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01678.x"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00321.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb04400.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/102.1.27"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1974.tb04833.x"},{"key":"e_1_2_1_24_1","series-title":"BD:OAS","first-page":"219","volume-title":"Nervous System","author":"Thurmon TF","year":"1971"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-193801000-00005"},{"key":"e_1_2_1_26_1","first-page":"312","article-title":"Combinaison de l'amyotrophie de Charcot\u2010Marie\u2010Tooth et de la maladie de Friedreich chez plusieurs membres d'une m\u011bne famille","volume":"34","author":"van Bogaert L","year":"1939","journal-title":"Encephale"},{"key":"e_1_2_1_27_1","first-page":"189","article-title":"Eine Sippe mit rezessiv geschlechtsgebundener spastischer Diplegie","volume":"27","author":"Wolfslast W","year":"1943","journal-title":"Z Menschl Vererb Konstit Lehre"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.50.9.1230"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320340203","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320340203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T01:45:32Z","timestamp":1697939132000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320340203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,10]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,10]]}},"alternative-id":["10.1002\/ajmg.1320340203"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320340203","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,10]]}}}