{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:43:21Z","timestamp":1788173001262,"version":"build-2803163510"},"reference-count":15,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:p>OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family. METHOD: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained. RESULTS: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home. CONCLUSION: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.<\/jats:p>","DOI":"10.1590\/s0004-282x2011000100004","type":"journal-article","created":{"date-parts":[[2011,4,9]],"date-time":"2011-04-09T13:06:57Z","timestamp":1302354417000},"page":"13-18","source":"Crossref","is-referenced-by-count":10,"title":["Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil"],"prefix":"10.1590","volume":"69","author":[{"given":"Eug\u00eania Ribeiro","family":"Valadares","sequence":"first","affiliation":[{"name":"UFMG,  Brazil; UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayara Xavier","family":"Pizarro","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Roberto","family":"Oliveira","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil; UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina Helena Caldas de","family":"Amorim","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil; UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarc\u00edsio M\u00e1rcio Magalh\u00e3es","family":"Pinheiro","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Grieben","sequence":"additional","affiliation":[{"name":"Neurop\u00e4diatrie,  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena Hollanda","family":"Santos","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel Rabelo","family":"Queiroz","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilherme de Castro","family":"Lopes","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana L\u00facia Brunialti","family":"Godard","sequence":"additional","affiliation":[{"name":"UFMG,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.ymgme.2008.01.001","article-title":"The function of CLN3P, the Batten disease protein","volume":"93","author":"IEM Digest","year":"2008","journal-title":"Mol Gen Metab"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0959-437X(00)00086-1","article-title":"Genetics of the neuronal ceroid lipofuscinoses","volume":"10","author":"Peltonen L","year":"2000","journal-title":"Current Opinion in Gen Dev"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.expneurol.2007.09.012","article-title":"Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease","volume":"209","author":"Kov\u00e1cs AD","year":"2008","journal-title":"Exp Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0014-4886","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1007\/s00415-003-1050-z","article-title":"Clinicopathological and molecular characterization of neuronal ceroid-lipofuscinoses in the Portuguese population","volume":"250","author":"Teixeira C","year":"2003","journal-title":"J Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0340-5354","issn-type":"print"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"S49","DOI":"10.1007\/s100720070040","article-title":"Neuronal ceroid lipofuscinoses: research update","volume":"21","author":"Wisniewski KE","year":"2000","journal-title":"Neurol Sci"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1203\/pdr.0b013e31802d8a4a","article-title":"Neuronal ceroid-lipofuscinoses: a common pathway?","volume":"61","author":"Persaud-Sawin DA","year":"2007","journal-title":"Pediatr Res","ISSN":"https:\/\/id.crossref.org\/issn\/0031-3998","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1006\/geno.1996.4576","article-title":"Genomic structure and complete nucleotide sequence of the batten disease gene, CLN3","volume":"40","author":"Mitchison HM","year":"1997","journal-title":"Genomics","ISSN":"https:\/\/id.crossref.org\/issn\/0888-7543","issn-type":"print"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1136\/jmg.33.12.1041","article-title":"Rapid diagnostic test for the major mutation underlying Batten disease","volume":"33","author":"J\u00e4rvel\u00e4 I","year":"1996","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.neulet.2005.07.023","article-title":"Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype","volume":"387","author":"Kwon JM","year":"2005","journal-title":"Neuroscience Letters","ISSN":"https:\/\/id.crossref.org\/issn\/0167-6253","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1006\/mgme.1999.2814","article-title":"Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations","volume":"66","author":"Wisniewski KE","year":"1999","journal-title":"Mol Gen Metab"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1002\/ana.410420517","article-title":"Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion)","volume":"42","author":"J\u00e4rvel\u00e4 I","year":"1997","journal-title":"An Neurol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1111\/j.1365-2788.2005.00659.x","article-title":"Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid-lipofuscinoses","volume":"49","author":"B\u00e4ckman ML","year":"2005","journal-title":"J Intellec Disab Res"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1086\/514846","article-title":"Spectrum of mutations in the Batten disease gene, CLN3","volume":"61","author":"Munroe B","year":"1997","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1136\/jmg.34.11.955","article-title":"Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR","volume":"34","author":"Taschner PEM","year":"1997","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1212\/01.wnl.0000180608.76190.10","article-title":"Should the Babinski sign be part of the routine neurologic examination?","volume":"65","author":"Miller TM","year":"2005","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v69n1\/04.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T16:03:36Z","timestamp":1495814616000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2011000100004&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["S0004-282X2011000100004"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x2011000100004","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2]]}}}