Nasu-Hakola病

Nasu-Hakola Disease

Nasu- Hakola病(NHD)又称多囊性脂膜样骨发育不良并硬化性白质脑病(PLOSL),其特点是不断进展的早老性痴呆和全身多发骨囊肿。目前报道的病例大多来自芬兰和日本。NHD是一种隐性遗传性疾病,病变位于19q13.1 上的DAP12基因畸变及TREM2基因突变,在性别分布上没有差异。病理学改变为骨组织膜囊性变及中枢神经系统的退行性变。诊断要点为进行性痴呆、多发性骨囊肿。

The characteristics of clinical, radiological, pathological, and molecular of Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) are reviewed. Nasu-Hakola disease is a unique disease characterized by multiple bone cysts associated with a peculiar form of neurodegeneration that leads to dementia and precocious death usually during the fifth decade of life. The diagnosis can be established on the basis of clinical and radiological findings. Recently, molecular analysis of affected families revealed mutations in the DAP12 (TYROBP) or TREM2 genes, providing an interesting example how mutations in two different subunits of a multi-subunit receptor complex result in an identical human disease phenotype. The association of NHD with mutations in the DAP12 or TREM2 genes has led to improved diagnosis of affected individuals.