BRAIN and NERVE Shinkei Kenkyu no Shinpo Volume 68, Issue 5 (May 2016)

Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions Jun-ichi Satoh 1 1Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University Keyword: 骨囊胞 , 白質脳症 , ミクログリア , 那須・ハコラ病 , 認知症 , bone cyst , dementia , leukoencephalopathy , microglia , Nasu-Hakola disease pp.543-550
Published Date 2016/5/1
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Nasu-Hakola disease (NHD) is a rare intractable autosomal recessive disorder, characterized by pathological bone fractures and progressive dementia owing to multifocal bone cysts and leukoencephalopathy, caused by various genetic mutations of either DAP12 or TREM2. Loss-of-function of TREM2-DAP12, constituting a signaling complex on osteoclasts and microglia, plays a central role in the pathogenesis of NHD. Recently, NHD has been recognized as the disease entity designated “microgliopathy”. However, at present, TREM2-specific ligands in microglia and the precise molecular mechanism underlying leukoencephalopathy remain to be investigated in order to establish an effective molecular targeted therapy for NHD.

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BRAIN and NERVE-神経研究の進歩
68巻5号 (2016年5月)
電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院