title: Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Departamento de Propedêutica Complementar, Faculdade de Medicina, UFMG, Belo Horizonte, MG, Brazil. eugenia@medicina.ufmg.br
authors.forename: Eugênia Ribeiro
authors.initials: ER
authors.lastname: Valadares
authors.forename: Mayara Xavier
authors.initials: MX
authors.lastname: Pizarro
authors.forename: Luiz Roberto
authors.initials: LR
authors.lastname: Oliveira
authors.forename: Regina Helena Caldas de
authors.initials: RH
authors.lastname: Amorim
authors.forename: Tarcísio Márcio Magalhães
authors.initials: TM
authors.lastname: Pinheiro
authors.forename: Ulrike
authors.initials: U
authors.lastname: Grieben
authors.forename: Helena Hollanda
authors.initials: HH
authors.lastname: Santos
authors.forename: Rachel Rabelo
authors.initials: RR
authors.lastname: Queiroz
authors.forename: Guilherme de Castro
authors.initials: Gde C
authors.lastname: Lopes
authors.forename: Ana Lúcia Brunialti
authors.initials: AL
authors.lastname: Godard
mesh_terms: D000293:Adolescent; D001938:Brazil; D002423:Cause of Death; D002648:Child; D003241:Consanguinity; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D009755:Night Blindness / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D014786:Vision Disorders / Q000235:genetics