{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:02:10Z","timestamp":1771002130193,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4861,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The ceroid\u2010lipofuscinoses are a group of inherited neurodegenerative disorders characterised by the accumulation of autofluorescent lipopigment in neurones and other cell types. The underlying biochemical defect is unknown. Juvenile onset neuronal ceroidlipofuscinosis (Batten disease; Spielmeyer\u2010Vogt disease) is an autosomal recessive trait. Linkage studies were undertaken to determine the location of the Batten disease (CLN3) mutation. Studies were carried out on 205 members of 42 families in which there were 76 affected individuals. Families originated from 7 North European countries and Canada.<\/jats:p><jats:p>Serum samples from 23 families, including a total of 48 affected children, were tested for a set of \u201cclassical markers.\u201d A positive lod score was found with the haptoglobin (Hp) system. The combined male and female maximum lod score was 3.00 at \u03b8 = 0.00 and \u03b8 = 0.26, respectively. This provided an indication of localisation to the long arm of chromosome 16.<\/jats:p><jats:p>Linkage analysis was then carried out in 42 families using DNA markers for loci on human chromosome 16. The maximal lod score between Batten disease and the locus D16S148 calculated for combined sexes was 6.05. No recombinants were observed. Multilocus analysis using 5 loci indicated the most likely order to be HP\u2013D16S151\u2013D16S150\u2013CLN3\u2013D16S148\u2013D16S147.<\/jats:p><jats:p>Work is in progress to refine the genetic and physical localisation of the Batten disease gene using additional markers in this region and a panel of somatic cell hybrids. Methods are now available which should allow the gene to be isolated and characterised.<\/jats:p>","DOI":"10.1002\/ajmg.1320420423","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:39:44Z","timestamp":1118497184000},"page":"539-541","source":"Crossref","is-referenced-by-count":16,"title":["Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis"],"prefix":"10.1002","volume":"42","author":[{"given":"R. M.","family":"Gardiner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb03193.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0888-7543(90)90297-8","article-title":"Batten disease (Spielmeyer\u2010Vogt Disease, Juvenile onset neuronal ceroid lipofuscinosis) gene (CLN3) maps to human chromosome 16","volume":"8","author":"Gardiner RM","journal-title":"Genomics"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","unstructured":"JokahoI PuhakkaL SantavuoriP ManninenT NymanK PeltonenL(1990) Infantile neuronal ceroid lipofuscinosis is not an allelic form of Batten's disease.Genomics(in press).","DOI":"10.1016\/0888-7543(90)90298-9"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90471-6"},{"key":"e_1_2_1_6_1","first-page":"482","article-title":"Multi\u2010locus analysis in humans: detection of linkage and estimation of recombination","volume":"37","author":"Lathrop GM","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220413"},{"key":"e_1_2_1_8_1","first-page":"P1","volume-title":"Human Genetic Diseases","author":"Old JM","year":"1986"},{"key":"e_1_2_1_9_1","first-page":"57A","article-title":"A computer programme for linkage analysis in human pedigress","volume":"24","author":"Ott J","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310613"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1126\/science.2772657","article-title":"Identification of the cystic fibrosis gene: chromosome walking and jumptin","volume":"245","author":"Rommens JM","year":"1989","journal-title":"Science"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(88)80075-5"},{"key":"e_1_2_1_13_1","first-page":"117","article-title":"First trimester diagnosis of neuronal ceroid\u2010lipofuscinosis in chorionic villi","volume":"18","author":"Uvebrant P","year":"1987","journal-title":"Neuropediatrics"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420423","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420423","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T07:12:27Z","timestamp":1698131547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2,15]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,2,15]]}},"alternative-id":["10.1002\/ajmg.1320420423"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420423","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2,15]]}}}