Heterogeneity of presenile dementia with bone cysts (Nasu–Hakola disease)
- 8 October 2002
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 59 (7) , 1105-1107
- https://doi.org/10.1212/wnl.59.7.1105
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.Keywords
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