title: X-linked adrenoleukodystrophy: clinical course and minimal incidence in South Brazil.
abstract: X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only.
  
  
  OBJECTIVE
  To describe the clinical course of affected male patients from South Brazil between 1993 and 2007.
  
  
  METHODS
  Affected male patients and their maternal lineages were studied from a clinical, neurological and biochemical standpoint.
  
  
  RESULTS
  Eighty-three male patients from 30 families were biochemically evaluated: 51 were affected. 27/51 (54%) presented the cerebral form; 11/51 had AMN (22%); 5 had Addison-only (10%), and 8 (16%) were asymptomatic. Between 2002 and 2006, the minimal incidence was 1:35,000 males in our State (South Brazil). Forty-three affected individuals were followed for 5.4+/-3.7 years. Of 10 boys detected at early stages, three developed CALD. These three boys and another five CALD at baseline were referred to hematopoietic stem cell transplantation. Seven transplants were carried out, 5 with good clinical evolution after 2.2 years post-transplant. The non-transplanted case was later defined as a stable cerebral form.
  
  
  CONCLUSIONS
  Among the present families, the observed cases were comparable to the 50% expected by Mendelian segregation. Based on the natural history, the number of cases that developed CALD was similar to the expected. Transplants were successful in 70% of cases. The occurrence of a stable cerebral form pointed to an urgent need for better markers of active cerebral disease.
authors.affiliation: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90.035-903 Porto Alegre, Brazil. ljardim@hcpa.ufrgs.br <ljardim@hcpa.ufrgs.br>
authors.forename: Laura Bannach
authors.initials: LB
authors.lastname: Jardim
authors.forename: Andrew Chaves Feitosa
authors.initials: AC
authors.lastname: da Silva
authors.forename: Deborah
authors.initials: D
authors.lastname: Blank
authors.forename: Maria Mercedes
authors.initials: MM
authors.lastname: Villanueva
authors.forename: Luisa
authors.initials: L
authors.lastname: Renck
authors.forename: Mariana La Bella
authors.initials: ML
authors.lastname: Costa
authors.forename: Carmen Regla
authors.initials: CR
authors.lastname: Vargas
authors.forename: Marion
authors.initials: M
authors.lastname: Deon
authors.forename: Daniel la M
authors.initials: Dl
authors.lastname: Coelho
authors.forename: Leonardo
authors.initials: L
authors.lastname: Vedolin
authors.forename: Cláudio Galvão
authors.initials: CG
authors.lastname: de Castro
authors.forename: Lauro
authors.initials: L
authors.lastname: Gregianin
authors.forename: Carmem
authors.initials: C
authors.lastname: Bonfim
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000326:Adrenoleukodystrophy / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000601:surgery*; D001938:Brazil / Q000453:epidemiology; D002849:Chromatography, Gas / Q000379:methods; D041321:Chromosomes, Human, X; D003066:Coenzyme A Ligases / Q000378:metabolism; D018450:Disease Progression; D005192:Family Health; D005227:Fatty Acids / Q000378:metabolism; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D012189:Retrospective Studies; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric
chemical_list: D005227:Fatty Acids; C017364:hexacosanoic acid; D003066:Coenzyme A Ligases; C007547:behenic acid