{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:12:24Z","timestamp":1777867944503,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,2,12]],"date-time":"2008-02-12T00:00:00Z","timestamp":1202774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,2,12]],"date-time":"2008-02-12T00:00:00Z","timestamp":1202774400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"abstract":"<jats:p>Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.<\/jats:p>","DOI":"10.1159\/000116807","type":"journal-article","created":{"date-parts":[[2008,2,12]],"date-time":"2008-02-12T06:16:35Z","timestamp":1202796995000},"page":"121-125","source":"Crossref","is-referenced-by-count":14,"title":["Clinical, Cytogenetic and Immunological Aspects in 4 Cases Resembling Ataxia Telangiectasia"],"prefix":"10.1159","author":[{"given":"G.","family":"Lanzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Balottin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Franciotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Maserati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ottolini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Veggiotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,2,12]]},"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/116807","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000116807","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:13:22Z","timestamp":1777547602000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000116807"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,12]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000116807","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"value":"0014-3022","type":"print"},{"value":"1421-9913","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,12]]}}}