Nasu-Hakola disease

Definition:

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring during adolescence and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus neurological impairments seen in this disease are considered to be directly caused by microglial dysfunction.

References:

[1]. Marino M Bianchin, et al. Nasu-Hakola disease and primary microglial dysfunction. Nat Rev Neurol. 2010 Sep;6(9):2 p following 523. [Content Brief]

[2]. Minoru Kaneko, et al. Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology. Neuropathology. 2010 Oct;30(5):463-70. [Content Brief]

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