{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:08Z","timestamp":1761717968325},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. Main clinical features of this rare disorder include floppiness and delayed milestones in early infancy, preceding mild cerebellar ataxia, non\u2010progressive clinical course, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis. Because of the large preponderance of female patients, X\u2010linked dominant transmission was suggested by [Fenichel and Phillips (1989); Arch Neurol 46:582\u2013583], and subsequent reports only concern female patients. Only one family with male\u2010to\u2010male transmission presenting with a generalized atrophy of the cerebellum rather than a more localized vermis aplasia has been reported so far. We report on a family in which father and son are affected by a mild form of ACV, thus confirming an autosomal mode of inheritance of the disease. Our patients showed a progressive improvement of their motor abilities, neurological examination of the father being actually normal except for a mild mental retardation. We also evaluated the potential role of two candidate genes, <jats:italic>EN2<\/jats:italic> and <jats:italic>ZIC1<\/jats:italic>, responsible for abnormal cerebellar development in murine knock\u2010out models. However, molecular analysis failed to reveal any causative mutation in the coding sequence of the two genes in our patients. The understanding of the genetic basis of autosomal dominant ACV would allow a better classification of isolate cerebellar malformations and might permit to understand cell differentiation and migration in the developing central nervous system. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30795","type":"journal-article","created":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T21:18:04Z","timestamp":1118092684000},"page":"198-200","source":"Crossref","is-referenced-by-count":6,"title":["Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes <i>EN2<\/i> and <i>ZIC1<\/i>"],"prefix":"10.1002","volume":"136A","author":[{"given":"Luigi","family":"Titomanlio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola Brunetti","family":"Pierri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfonso","family":"Romano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Floriana","family":"Imperati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Borrelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Barletta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alvaro Antonio","family":"Diano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imma","family":"Castaldo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucio","family":"Santoro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ennio","family":"Del Giudice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.1994.63051880.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-01-00284.1998"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20438"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10145"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1989.00520410118036"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170417"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1037\/0735-7044.110.1.126"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90124-Q"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1983.04050050078012"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600104"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.17-20-07881.1997"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1242\/dev.120.3.695","article-title":"Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed\u20102mutants","volume":"120","author":"Millen KJ","year":"1994","journal-title":"Development"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012235510600"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071342"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(87)90008-7"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30795","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30795","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:02:43Z","timestamp":1697155363000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30795"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,6,6]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,7,15]]}},"alternative-id":["10.1002\/ajmg.a.30795"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30795","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,6,6]]}}}