Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

Arquivos de Neuro-Psiquiatria

Eugênia Ribeiro Valadares¹  Mayara Xavier Pizarro²  Luiz Roberto Oliveira²  Regina Helena Caldas De Amorim²  Tarcísio Márcio Magalhães Pinheiro²  Ulrike Grieben²  Helena Hollanda Santos²  Rachel Rabelo Queiroz²  Guilherme De Castro Lopes²  Ana Lúcia Brunialti Godard² 

[1] ,UFMG Faculdade de Medicina Departamento de Propedêutica ComplementarBelo Horizonte MG ,Brazil

关键词: Batten disease;    neuronal ceroid-lipofuscinoses;    polymerase chain reaction;    doença de Batten;    lipofuscinoses ceróides neuronais;    reação em cadeia da polimerase;   

DOI  :  10.1590/S0004-282X2011000100004

来源: SciELO

【 摘 要 】

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. METHOD: 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. CONCLUSION: 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.

【 授权许可】

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