Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil
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...
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Thieme Revinter Publicações
2011-02-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000100004&lng=en&tlng=en |
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| author | Eugênia Ribeiro Valadares Mayara Xavier Pizarro Luiz Roberto Oliveira Regina Helena Caldas de Amorim Tarcísio Márcio Magalhães Pinheiro Ulrike Grieben Helena Hollanda Santos Rachel Rabelo Queiroz Guilherme de Castro Lopes Ana Lúcia Brunialti Godard |
| author_facet | Eugênia Ribeiro Valadares Mayara Xavier Pizarro Luiz Roberto Oliveira Regina Helena Caldas de Amorim Tarcísio Márcio Magalhães Pinheiro Ulrike Grieben Helena Hollanda Santos Rachel Rabelo Queiroz Guilherme de Castro Lopes Ana Lúcia Brunialti Godard |
| author_sort | Eugênia Ribeiro Valadares |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7385c7f4afed459e9f59dda6be8797af |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2011-02-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-7385c7f4afed459e9f59dda6be8797af2025-08-20T02:06:19ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272011-02-01691131810.1590/S0004-282X2011000100004S0004-282X2011000100004Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in BrazilEugênia Ribeiro Valadares0Mayara Xavier Pizarro1Luiz Roberto Oliveira2Regina Helena Caldas de Amorim3Tarcísio Márcio Magalhães Pinheiro4Ulrike Grieben5Helena Hollanda Santos6Rachel Rabelo Queiroz7Guilherme de Castro Lopes8Ana Lúcia Brunialti Godard9Universidade Federal de Minas GeraisUniversidade Federal de Minas GeraisUniversidade Federal de Minas GeraisUniversidade Federal de Minas GeraisUniversidade Federal de Minas GeraisNeuropädiatrieUniversidade Federal de Minas GeraisUniversidade Federal de Minas GeraisUniversidade Federal de Minas GeraisUniversidade Federal de Minas GeraisOBJECTIVE: 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000100004&lng=en&tlng=endoença de Battenlipofuscinoses ceróides neuronaisreação em cadeia da polimerase |
| spellingShingle | Eugênia Ribeiro Valadares Mayara Xavier Pizarro Luiz Roberto Oliveira Regina Helena Caldas de Amorim Tarcísio Márcio Magalhães Pinheiro Ulrike Grieben Helena Hollanda Santos Rachel Rabelo Queiroz Guilherme de Castro Lopes Ana Lúcia Brunialti Godard Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil Arquivos de Neuro-Psiquiatria doença de Batten lipofuscinoses ceróides neuronais reação em cadeia da polimerase |
| title | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| title_full | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| title_fullStr | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| title_full_unstemmed | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| title_short | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| title_sort | juvenile neuronal ceroid lipofuscinosis clinical and molecular investigation in a large family in brazil |
| topic | doença de Batten lipofuscinoses ceróides neuronais reação em cadeia da polimerase |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000100004&lng=en&tlng=en |
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