{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:12:32Z","timestamp":1771668752372,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,7,2]],"date-time":"2010-07-02T00:00:00Z","timestamp":1278028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Metachromatic leukodystrophy (MLD) is a lysosomal disorder caused by arylsulfatase A (ARSA) deficiency. It is classified into three forms according to the age of onset of symptoms (late infantile, juvenile, and adult). We carried out a cross\u2010sectional and retrospective study, which aimed to determine the epidemiological, clinical, and biochemical profile of MLD patients from a national reference center for Inborn Errors of Metabolism in Brazil. Twenty\u2010nine patients (male, 17) agreed to participate in the study (late infantile form: 22; juvenile form: 4; adult form: 1; asymptomatic: 2). Mean ages at onset of symptoms and at biochemical diagnosis were, respectively, 19 and 39 months for late infantile form and 84.7 and 161.2 months for juvenile form. The most frequently reported first clinical symptom\/sign of the disease was gait disturbance and other motor abnormalities (72.7%) for late infantile form and behavioral and cognitive alterations (50%) for juvenile form. Leukocyte ARSA activity level did not present significant correlation with the age of onset of symptoms (<jats:italic>r<\/jats:italic>\u2009=\u2009\u22120.09, <jats:italic>p<\/jats:italic>\u2009=\u20090.67). Occipital white matter and basal nuclei abnormalities were not found in patients with the late infantile MLD. Our results suggest that there is a considerable delay between the age of onset of signs and symptoms and the diagnosis of MLD in Brazil. Correlation between ARSA activity and MLD clinical form was not found. Further studies on the epidemiology and natural history of this disease with larger samples are needed, especially now when specific treatments should be available in the near future.<\/jats:p>","DOI":"10.1007\/s10545-010-9140-4","type":"journal-article","created":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T06:08:32Z","timestamp":1277964512000},"page":"257-262","source":"Crossref","is-referenced-by-count":19,"title":["Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy"],"prefix":"10.1002","volume":"33","author":[{"given":"Osvaldo","family":"Artigal\u00e1s","sequence":"first","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"},{"name":"Post Graduation Program in Genetics and Molecular Biology, Department of Genetics UFRGS Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeska Lizzi","family":"Lagranha","sequence":"additional","affiliation":[{"name":"Post Graduation Program in Genetics and Molecular Biology, Department of Genetics UFRGS Porto Alegre RS Brazil"},{"name":"Gene Therapy Center, Experimental Research Center, HCPA Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Luiza","family":"Saraiva\u2010Pereira","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"},{"name":"Department of Biochemistry UFRGS Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maira Graeff","family":"Burin","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles Marques","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Medicine of Ribeir\u00e3o Preto USP Ribeir\u00e3o Preto SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"H\u00e9lio","family":"van der Linden","sequence":"additional","affiliation":[{"name":"Center for Disability and Rehabilitation Dr. Henrique Santillo Goi\u00e2nia GO Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara L\u00facia Ferreira","family":"Santos","sequence":"additional","affiliation":[{"name":"Neurology Service, Hospital Pequeno Pr\u00edncipe Hospital Curitiba PR Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Rosemberg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Child Neurology Division Santa Casa of S\u00e3o Paulo School of Medicine S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics UNICAMP Campinas SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine USP S\u00e3o Paulo SP Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina F. Moura","family":"de Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura B.","family":"Jardim","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"},{"name":"Department of Internal Medicine UFRGS Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"},{"name":"Post Graduation Program in Genetics and Molecular Biology, Department of Genetics UFRGS Porto Alegre RS Brazil"},{"name":"Department of Genetics UFRGS Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida Vanessa","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA Porto Alegre RS Brazil"},{"name":"Post Graduation Program in Genetics and Molecular Biology, Department of Genetics UFRGS Porto Alegre RS Brazil"},{"name":"Department of Genetics UFRGS Porto Alegre RS Brazil"},{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica\u2013Hospital de Cl\u00ednicas de Porto Alegre Rua Ramiro Barcelos, 2350 Porto Alegre RS 90035\u2010003 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00164-8"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01058.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2008.275"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28873"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2005.063776"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.23.9436"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1819.1999.00569.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<475::AID-AJMG20>3.0.CO;2-C"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000022956"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.3.168"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201044"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00212.x"},{"key":"e_1_2_6_16_1","first-page":"3695","volume-title":"The metabolic and molecular basis of inherited disease","author":"Von Figura K","year":"2001"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9140-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:21:41Z","timestamp":1694758901000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9140-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,2]]},"references-count":15,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-010-9140-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9140-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,2]]}}}