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Neurology. 2002 Oct 8;59(7):1105-7.

Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.

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Department of Immunology, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Kodairo, Tokyo, Japan.


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.

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