polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
PLOSL, Nasu-Hakola disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts.
Eiology
Mutations in the TYROBP-mediated signaling pathway plays a significant role in human brain and bone tissue
- mutations in the TYROBP (DAP12) gene which codes for a membrane receptor component in natural-killer and myeloid cells
- mutations in TREM2, (TREM2 forms a receptor signaling complex with TYROBP and triggers activation of the immune responses in macrophages and dendritic cells). (#12080485#)
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