{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T14:44:18Z","timestamp":1782744258020,"version":"3.54.5"},"reference-count":40,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T00:00:00Z","timestamp":1343174400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the clinical outcome and correlate with genotype in 12 Spanish patients with this disease. Psychomotor regression, epilepsy, and other clinical symptoms\/signs were assessed. Age at onset of clinical symptoms ranged from 18 months to 3.7 years, and they included delayed speech and simple febrile seizures followed by epilepsy. Partial seizures and myoclonic jerks occurred at an earlier age (median 3.4 and 3.7 years, respectively) than ataxia and cognitive decline (median 4 years). Clinical regression was initiated by loss of sentences (median 3.7 years) followed by loss of walking ability and absence of language (median 4.5 years). Patients showed blindness and lost sitting ability at similar age (median 5 years). The authors report 4 novel mutations in the CLN2 gene. This study provides detailed information about the natural history of this disease.<\/jats:p>","DOI":"10.1177\/0883073812448459","type":"journal-article","created":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T23:10:16Z","timestamp":1343257816000},"page":"470-478","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":29,"title":["Late Infantile Neuronal Ceroid Lipofuscinosis"],"prefix":"10.1177","volume":"28","author":[{"given":"Mar\u00eda S.","family":"P\u00e9rez-Poyato","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e9 Pineda","family":"Marfa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isidre Ferrer","family":"Abizanda","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, Service of Anatomical Pathology, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, CIBERNED, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Rodriguez-Revenga","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain"},{"name":"Biochemical and Molecular Genetics Department, IDIBAPS, Hospital Cl\u00ednic, Universitat de Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria Cus\u00ed","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Service of Anatomical Pathology, Hospital Sant Joan de D\u00e9u, Esplugues de Llobregat, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda J Mart\u00ednez","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Cruces, Baracaldo, Bizkaia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas Eiris","family":"Pu\u00f1al","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Cl\u00ednico Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso Verd\u00fa","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Virgen de la Salud, Toledo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Mar Garc\u00eda","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital de Figueras, Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Mart\u00ednez","family":"Bermejo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital La Paz, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Mart\u00edn","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Pediatric Unit of rare disease, Hospital 12 de Octubre, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Josep Coll","family":"Rosell","sequence":"additional","affiliation":[{"name":"Biochemical and Molecular Genetics Department, Inborn Errors of Metabolism (IBC), Hospital Cl\u00ednic, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Gort","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain"},{"name":"Biochemical and Molecular Genetics Department, Inborn Errors of Metabolism (IBC), Hospital Cl\u00ednic, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Mil\u00e1","sequence":"additional","affiliation":[{"name":"Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Spain"},{"name":"Biochemical and Molecular Genetics Department, IDIBAPS, Hospital Cl\u00ednic, Universitat de Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2012,7,25]]},"reference":[{"key":"bibr1-0883073812448459","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1998.tb00142.x"},{"key":"bibr2-0883073812448459","first-page":"37","volume-title":"The Neuronal Ceroid Lipofuscinosis (Batten Disease). 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