{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T08:54:28Z","timestamp":1776848068165,"version":"3.51.2"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,1,16]],"date-time":"2008-01-16T00:00:00Z","timestamp":1200441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005743","name":"Universit\u00e0 Cattolica del Sacro Cuore","doi-asserted-by":"crossref","award":["linea D1"],"award-info":[{"award-number":["linea D1"]}],"id":[{"id":"10.13039\/501100005743","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2008,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel mutation: a homozygous deletion of two nucleotides (1257\u20131258 TT del) causing the premature stop of the Cp protein translation (Y401X). An early diagnosis of iron overload was made in the female sibling who was subsequently treated with deferoxamine. At the age of 54, her neurologic symptoms were limited to mild akinetic signs and a history of seizures; moreover, her fasting blood glucose level never exceeded 120 mg\/dL. The male sibling, who had not received any specific treatment for HA, developed severe diabetes at the age of 32 and at 48 manifested a progressively disabling neurologic disease. Possible physiopathological bases of these intrafamilial phenotypic variations are discussed. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21938","type":"journal-article","created":{"date-parts":[[2008,1,16]],"date-time":"2008-01-16T23:16:48Z","timestamp":1200525408000},"page":"751-755","source":"Crossref","is-referenced-by-count":52,"title":["Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability"],"prefix":"10.1002","volume":"23","author":[{"given":"Alfonso","family":"Fasano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesare","family":"Colosimo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Miyajima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro Attilio","family":"Tonali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J.","family":"Re","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Rita","family":"Bentivoglio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,1,16]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.5.761"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0395-267"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370515"},{"key":"e_1_2_6_5_2","first-page":"663","article-title":"Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus","volume":"87","author":"Logan JI","year":"1994","journal-title":"Q J Med"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0445-9"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0289-6"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21121"},{"key":"e_1_2_6_9_2","first-page":"657","article-title":"MR imaging of cerebral cortical involvement in aceruloplasminemia","volume":"26","author":"Grisoli M","year":"2005","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.42.599"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2005.02.013"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410318"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(02)00042-9"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2003.030429"},{"key":"e_1_2_6_15_2","first-page":"483","article-title":"A case with ceruloplasmin deficiency which showed dementia, ataxia and iron deposition in the brain","volume":"32","author":"Morita H","year":"1992","journal-title":"Rinsho Shinkeigaku"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.1.81"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.7.2539"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0561"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21938","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21938","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21938","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.21938","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21938","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:45:08Z","timestamp":1760957108000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21938"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,16]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,4,15]]}},"alternative-id":["10.1002\/mds.21938"],"URL":"https:\/\/doi.org\/10.1002\/mds.21938","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,16]]}}}