{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T15:10:08Z","timestamp":1766157008166},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,20]],"date-time":"2004-10-20T00:00:00Z","timestamp":1098230400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,12]]},"abstract":"<jats:p>A 20\u2010year\u2010old North American patient developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No structural changes were found in the <jats:italic>PRNP<\/jats:italic> gene, which excludes genetic prion disease, but the patient's PRNP codon 129 Met\/Met genotype is known to predispose to variant Creutzfeldt\u2010Jakob disease (vCJD). Further studies identified an expanded allele with 55 CAG\/CAA repeats in the <jats:italic>TBP<\/jats:italic> gene. The increase of trinucleotide repeat number in the coding region of the <jats:italic>TBP<\/jats:italic> gene has previously been associated with spinocerebellar ataxia type 17 (SCA17). The patient's unaffected parents and siblings show normal\u2010size <jats:italic>TBP<\/jats:italic> alleles with 37\u201338 repeats. Haplotype and nucleotide sequence analyses clearly indicate that the mutation has occurred <jats:italic>de novo<\/jats:italic> on a paternal chromosome by insertion\/duplication of a (CAA)(CAG)(CAA)(CAG)<jats:sub>15<\/jats:sub> sequence. This report presents a second fully investigated sporadic case of SCA17 occurring as a result of a DNA rearrangement within the polymorphic TBP trinucleotide repeat region. Our findings suggest that patients suspected of vCJD should undergo testing for SCA17, Huntington's disease and other neurodegener\u2010ative disorders having phenotypic similarities with vCJD.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00356.x","type":"journal-article","created":{"date-parts":[[2004,12,22]],"date-time":"2004-12-22T00:25:13Z","timestamp":1103675113000},"page":"496-501","source":"Crossref","is-referenced-by-count":26,"title":["Small <i>de novo<\/i> duplication in the repeat region of the TATA\u2010box\u2010binding protein gene manifest with a phenotype similar to variant Creutzfeldt\u2010Jakob disease"],"prefix":"10.1111","volume":"66","author":[{"given":"A","family":"Shatunov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"EA","family":"Fridman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"FI","family":"Pagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Leib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Singleton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Hallett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LG","family":"Goldfarb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2047"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10676"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201018"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1335"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1441"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.10.1939"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10514"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.3.032802.120023"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-003-0112-4"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg155"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015602"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0009-9163.2004.00213.x"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10600"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.3201\/eid0701.010102"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199609263351303"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.70.6.744"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)07472-2"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200005)47:5<575::AID-ANA4>3.3.CO;2-N"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.2.209"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0958-7"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10824"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.217"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M000154200"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<477::AID-AJMG14>3.3.CO;2-1"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9138"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.3.474"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00356.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00356.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T18:01:47Z","timestamp":1697220107000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00356.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00356.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00356.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11]]}}}