{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T10:50:37Z","timestamp":1692960637384},"reference-count":16,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Mutations in the<jats:italic>ALS2<\/jats:italic>gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia. Clinical investigations included sequencing analysis of the ALS2 gene, which revealed a heterozygous mutation in exon 5 (c.1425_1428del p.G477Af<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:msup><mml:mrow><mml:mtext>s<\/mml:mtext><\/mml:mrow><mml:mrow><mml:mi>*<\/mml:mi><\/mml:mrow><\/mml:msup><\/mml:mrow><\/mml:math>19) and a heterozygous and previously unreported variant in exon 3 (c.145G&gt;A p.G49R). We also examined 42 reported cases on the clinical characteristics and neurophysiological and imaging studies of patients with known ALS2 gene mutations sourced from PubMed. This showed that an overlap of phenotypic manifestations can exist in patients with infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and juvenile amyotrophic lateral sclerosis.<\/jats:p>","DOI":"10.1155\/2014\/691515","type":"journal-article","created":{"date-parts":[[2014,9,14]],"date-time":"2014-09-14T21:01:34Z","timestamp":1410728494000},"page":"1-5","source":"Crossref","is-referenced-by-count":5,"title":["Alsin Related Disorders: Literature Review and Case Study with Novel Mutations"],"prefix":"10.1155","volume":"2014","author":[{"given":"Filipa","family":"Flor-de-Lima","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hospital Pedi\u00e1trico Integrado, Centro Hospitalar de S\u00e3o Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"Faculty of Medicine, University of Porto, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"given":"Mafalda","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, Hospital Pedi\u00e1trico Integrado, Centro Hospitalar de S\u00e3o Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"given":"Nahid","family":"Nahavandi","sequence":"additional","affiliation":[{"name":"Centogene AG, Schillingallee 68, 18057 Rostock, Germany"}]},{"given":"Susana","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Unit of Pediatric Neurology, Hospital Pedi\u00e1trico Integrado, Centro Hospitalar de S\u00e3o Jo\u00e3o, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"},{"name":"Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hern\u00e2ni Monteiro, 4200-319 Porto, Portugal"}]}],"member":"98","reference":[{"key":"1","year":"1993"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c67be0"},{"key":"3","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng1001-160","volume":"29","year":"2001","journal-title":"Nature Genetics"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-166"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.09.009"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0148-y"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00993.x"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.108"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20879"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00138.x"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10422"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1086\/342359"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.3109\/21678421.2012.756036"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20665"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000338530.77394.60"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl104"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/691515.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/691515.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/691515.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T20:22:15Z","timestamp":1498162935000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2014\/691515\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":16,"alternative-id":["691515","691515"],"URL":"https:\/\/doi.org\/10.1155\/2014\/691515","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}