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Letter

Nature Genetics 25, 357–361 (1 July 2000) | doi:10.1038/77153

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts

Juha Paloneva , Marjo Kestil|[auml]| , Jun Wu , Antti Salminen , Tom B|[ouml]|hling , Vesa Ruotsalainen , Panu Hakola , Alexander B.H. Bakker , Joseph H. Phillips , Petra Pekkarinen , Lewis L. Lanier , Tuomo Timonen & Leena Peltonen

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2|[times]|10|[minus]|6 (ref.