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Heterogeneity of presenile dementia with bone cysts (Nasu–Hakola disease)

Three genetic forms

*These authors contributed equally to this work.
From the Department of Immunology (Drs. Kondo, K. Takahashi, Miyamoto, and Yamamura), National Institute of Neuroscience, NCNP, Tokyo; Department of Neurology (Dr. Kohara), Kobe City General Hospital, Kobe; Department of Neurology (Dr. Y. Takahashi), St. Marianna University of Medicine, Kawasaki; Department of Pathology (Drs. Hayashi and H. Takahashi), Brain Research Institute, Niigata University, Niigata; Department of Neurology (Dr. Matsuo), Kawatana National Hospital, Nagasaki; The Second Department of Internal Medicine (Dr. Yamazaki), Nippon Medical School; and Department of Neurology (Dr. Inoue), Jikei University School of Medicine, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Takashi Yamamura, Department of Immunology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo 187-8502, Japan; e-mail: yamamura{at}ncnp.go.jp

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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