title: Niemann-Pick disease type C: a case series of Brazilian patients.
abstract: The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C).
  
  
  METHODS
  Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Paulo José
authors.initials: PJ
authors.lastname: Lorenzoni
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Elaine
authors.initials: E
authors.lastname: Cardoso
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Ana C S
authors.initials: AC
authors.lastname: Crippa
authors.affiliation: Departamento de Genetica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Charles Marques
authors.initials: CM
authors.lastname: Lourenço
authors.affiliation: Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Fernanda Timm Seabra
authors.initials: FT
authors.lastname: Souza
authors.affiliation: Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.affiliation: Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Isac
authors.initials: I
authors.lastname: Bruck
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Claudia S K
authors.initials: CS
authors.lastname: Kay
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Rosana H
authors.initials: RH
authors.lastname: Scola
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Lineu C
authors.initials: LC
authors.lastname: Werneck
authors.affiliation: Servico de Neurologia, Departamento de Clinica Medica, Universidade Federal do Parana, Curitiba, PR, Brazil.
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001707:Biopsy, Needle; D001854:Bone Marrow Cells / Q000473:pathology; D001921:Brain / Q000473:pathology; D001938:Brazil; D002352:Carrier Proteins / Q000235:genetics; D002478:Cells, Cultured; D002648:Child; D005260:Female; D005347:Fibroblasts; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein