title: Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.
abstract: Nasu-Hakola disease (NHD) is an autosomal recessive disorder characterized by presenile dementia and bone cysts. Finnish patients revealed a large deletion in DAP12 gene encoding a key element for transducing activation signal. The authors examined six Japanese cases for DAP12 alleles. Five of the six had loss-of-function mutation, either a single-base deletion or a novel point mutation. The single patient without mutation normally expressed DAP12 protein. Japanese NHD has at least three genetic forms regarding DAP12.
authors.affiliation: Department of Immunology, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Kodairo, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kondo
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: N
authors.initials: N
authors.lastname: Kohara
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Hayashi
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: H
authors.initials: H
authors.lastname: Matsuo
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Miyamoto
authors.forename: T
authors.initials: T
authors.lastname: Yamamura
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001845:Bone Cysts / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000473:pathology; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics; D011971:Receptors, Immunologic / Q000096:biosynthesis / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins; D011971:Receptors, Immunologic; C110546:TYROBP protein, human