Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.
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.
Kondo
T
T
Department of Immunology, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Kodairo, Tokyo, Japan.
Takahashi
K
K
Kohara
N
N
Takahashi
Y
Y
Hayashi
S
S
Takahashi
H
H
Matsuo
H
H
Yamazaki
M
M
Inoue
K
K
Miyamoto
K
K
Yamamura
T
T
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
D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins; D011971:Receptors, Immunologic; C110546:TYROBP protein, human