Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria

Paulo José Lorenzoni¹  Elaine Cardoso¹  Ana C. S. Crippa¹  Charles Marques Lourenço¹  Fernanda Timm Seabra Souza¹  Roberto Giugliani¹  Maria Luiza Saraiva-pereira¹  Salmo Raskin¹  Isac Bruck¹  Cláudia S. K. Kay¹  Rosana H. Scola¹  Lineu C.werneck¹  Hélio A. G. Teive¹ 

关键词: Niemann-Pick disease type C;    bone marrow;    filipin stain;    NPC1 gene;    miglustat;    doença de Niemann-Pick tipo C;    medula óssea;    coloração de filipina;    gene NPC1;    miglustate;   

DOI  :  10.1590/0004-282X20130249

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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