{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T21:52:56Z","timestamp":1780350776862,"version":"3.54.1"},"reference-count":14,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>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 \u201cclassical\u201d pattern in two patients and a \u201cvariant\u201d 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 \u201cvariant\u201d pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis.<\/jats:p>","DOI":"10.1590\/0004-282x20130249","type":"journal-article","created":{"date-parts":[[2014,3,31]],"date-time":"2014-03-31T10:57:42Z","timestamp":1396263462000},"page":"214-218","source":"Crossref","is-referenced-by-count":11,"title":["Niemann-Pick disease type C: a case series of Brazilian patients"],"prefix":"10.1590","volume":"72","author":[{"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana C. S.","family":"Crippa","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles Marques","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Timm Seabra","family":"Souza","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luiza","family":"Saraiva-Pereira","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre,  Brazil; Universidade Federal do Rio Grande do Sul,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salmo","family":"Raskin","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isac","family":"Bruck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia S. K.","family":"Kay","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosana H.","family":"Scola","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lineu","family":"C.Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9lio A. G.","family":"Teive","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.ymgme.2009.06.009","article-title":"Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study","volume":"98","author":"Wraith E","year":"2009","journal-title":"Mol Genet Metab"},{"key":"ref2","article-title":"Disease and patient characteristics in NP-C patients: findings from an international disease registry","volume":"8","author":"Patterson MC","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2006.05.054","article-title":"Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale","volume":"249","author":"Iturriaga C","year":"2006","journal-title":"J 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