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

T Kondo, K Takahashi, N Kohara, Y Takahashi… - Neurology, 2002 - AAN Enterprises
T Kondo, K Takahashi, N Kohara, Y Takahashi, S Hayashi, H Takahashi, H Matsuo…
Neurology, 2002AAN Enterprises
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 …
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.
American Academy of Neurology