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polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Monday 17 November 2003

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)