Arquivos de neuro-psiquiatria · 2014
Niemann-Pick disease type C: a case series of Brazilian patients.
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Lorenzoni Paulo José, Cardoso Elaine, Crippa Ana C S, Lourenço Charles Marques, Souza Fernanda Timm Seabra, Giugliani Roberto, Saraiva-Pereira Maria Luiza, Raskin Salmo, Bruck Isac, Kay Claudia S K, Scola Rosana H, Werneck Lineu C, Teive Hélio A G
Аннотация
UNLABELLED: 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.
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.
Предметные рубрики MeSH
AdolescentAdultAge of OnsetBiopsy, NeedleBone Marrow CellsBrainBrazilCarrier ProteinsCells, CulturedChildFemaleFibroblastsHumansIntracellular Signaling Peptides and ProteinsMagnetic Resonance ImagingMaleMembrane GlycoproteinsMutationNiemann-Pick C1 ProteinNiemann-Pick Disease, Type CPolymerase Chain ReactionRetrospective StudiesSeverity of Illness IndexSkinYoung Adult