Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.
case_series · Level IV
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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.
Medical subject headings
- Alzheimer Disease
- Bone Cysts
- Genetic Heterogeneity