Niemann-Pick disease type C: a case series of Brazilian patients
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertic...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2014-03-01
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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=S0004-282X2014000300214&lng=en&tlng=en |
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| author | Paulo José Lorenzoni Elaine Cardoso Ana C. S. Crippa Charles Marques Lourenço Fernanda Timm Seabra Souza Roberto Giugliani Maria Luiza Saraiva-Pereira Salmo Raskin Isac Bruck Cláudia S. K. Kay Rosana H. Scola Lineu C.Werneck Hélio A. G. Teive |
| author_facet | Paulo José Lorenzoni Elaine Cardoso Ana C. S. Crippa Charles Marques Lourenço Fernanda Timm Seabra Souza Roberto Giugliani Maria Luiza Saraiva-Pereira Salmo Raskin Isac Bruck Cláudia S. K. Kay Rosana H. Scola Lineu C.Werneck Hélio A. G. Teive |
| author_sort | Paulo José Lorenzoni |
| collection | DOAJ |
| description | The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the “classical” pattern in two patients and a “variant” pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. Conclusion Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the “variant” pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis. |
| format | Article |
| id | doaj-art-a02badeda6ba48cc82dfe4d8ace2fc43 |
| institution | DOAJ |
| issn | 1678-4227 |
| language | English |
| publishDate | 2014-03-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-a02badeda6ba48cc82dfe4d8ace2fc432025-08-20T03:18:55ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272014-03-0172321421810.1590/0004-282X20130249S0004-282X2014000300214Niemann-Pick disease type C: a case series of Brazilian patientsPaulo José LorenzoniElaine CardosoAna C. S. CrippaCharles Marques LourençoFernanda Timm Seabra SouzaRoberto GiuglianiMaria Luiza Saraiva-PereiraSalmo RaskinIsac BruckCláudia S. K. KayRosana H. ScolaLineu C.WerneckHélio A. G. TeiveThe aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the “classical” pattern in two patients and a “variant” pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. Conclusion Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the “variant” pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000300214&lng=en&tlng=endoença de Niemann-Pick tipo Cmedula ósseacoloração de filipinagene NPC1miglustate |
| spellingShingle | Paulo José Lorenzoni Elaine Cardoso Ana C. S. Crippa Charles Marques Lourenço Fernanda Timm Seabra Souza Roberto Giugliani Maria Luiza Saraiva-Pereira Salmo Raskin Isac Bruck Cláudia S. K. Kay Rosana H. Scola Lineu C.Werneck Hélio A. G. Teive Niemann-Pick disease type C: a case series of Brazilian patients Arquivos de Neuro-Psiquiatria doença de Niemann-Pick tipo C medula óssea coloração de filipina gene NPC1 miglustate |
| title | Niemann-Pick disease type C: a case series of Brazilian patients |
| title_full | Niemann-Pick disease type C: a case series of Brazilian patients |
| title_fullStr | Niemann-Pick disease type C: a case series of Brazilian patients |
| title_full_unstemmed | Niemann-Pick disease type C: a case series of Brazilian patients |
| title_short | Niemann-Pick disease type C: a case series of Brazilian patients |
| title_sort | niemann pick disease type c a case series of brazilian patients |
| topic | doença de Niemann-Pick tipo C medula óssea coloração de filipina gene NPC1 miglustate |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000300214&lng=en&tlng=en |
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