title: The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear.
abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder characterized with accumulation of cholesterol in endosomes and lysosomes. The diagnosis of NP-C is difficult due to its heterogeneous group of diseases. Biochemical diagnosis of NP-C is conducted by cholesterol staining with cultured skin fibroblasts and confirmed by the analysis of genetic mutations of NPC1 or NPC2 gene. Here, we report an easier biochemical diagnostic method with blood smear by filipin staining.
authors.affiliation: Advanced Clinical Research Center, Institute for Neurological Disorders, Fukushima and Kanagawa, Japan. Electronic address: ayumi.takamura@mt.strins.or.jp.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Takamura
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Michiko
authors.initials: M
authors.lastname: Shinpoo
authors.forename: Atsuko
authors.initials: A
authors.lastname: Noguchi
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Takahashi
authors.forename: Shin
authors.initials: S
authors.lastname: Matsuda
authors.forename: Masanari
authors.initials: M
authors.lastname: Yamamoto
authors.forename: Aya
authors.initials: A
authors.lastname: Narita
authors.forename: Kosaku
authors.initials: K
authors.lastname: Ohno
authors.forename: Toya
authors.initials: T
authors.lastname: Ohashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ida
authors.forename: Yoshikatsu
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000293:Adolescent; D001773:Blood Cells / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D005372:Filipin; D006801:Humans; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis*; D013194:Staining and Labeling / Q000379:methods; D055815:Young Adult
chemical_list: D005372:Filipin
keywords: Blood smear; Cholesterol; Filipin staining; Lipid raft; Niemann-Pick disease type C