{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:35:34Z","timestamp":1792643734800,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2006,2,15]],"date-time":"2006-02-15T00:00:00Z","timestamp":1139961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,6,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early\u2010onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early\u2010onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available. \u00a9 2006 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20804","type":"journal-article","created":{"date-parts":[[2006,2,15]],"date-time":"2006-02-15T14:16:54Z","timestamp":1140013014000},"page":"869-872","source":"Crossref","is-referenced-by-count":9,"title":["Congenital disorder of glycosylation type Ia presenting as early\u2010onset cerebellar ataxia in an adult"],"prefix":"10.1002","volume":"21","author":[{"given":"Kerrie L.","family":"Schoffer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John D.","family":"O'Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jim","family":"McGill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,6,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1136-0"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-38614"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(97)80064-5"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.06.021"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005660004047"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1298"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-004-0975-3"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.85.4.339"},{"key":"e_1_2_6_10_2","first-page":"389","article-title":"Mannose therapy in carbohydrate\u2010deficient glycoprotein syndrome type 1: first results of the German multicenter study","volume":"12","author":"Marquardt T","year":"1997","journal-title":"Amino Acids"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.mop.0000133636.56790.4a"},{"key":"e_1_2_6_12_2","first-page":"2037","article-title":"Linkage of a locus for carbohydrate\u2010deficient glycoprotein syndrome type I (CDG1) to chromosome 16 p, and linkage disequilibrium to microsatellite marker D16S406","volume":"3","author":"Martinsson T","year":"1994","journal-title":"Hum Mol Genet"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90097-3"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200161"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.5.552"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200470"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.20804","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.20804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:42:10Z","timestamp":1760953330000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.20804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,6]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2006,6,6]]}},"alternative-id":["10.1002\/mds.20804"],"URL":"https:\/\/doi.org\/10.1002\/mds.20804","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,6]]}}}