| H00438 | |
| H番号 | H00438 |
| 名称 | 那須ハコラ病; 多発性骨嚢胞および白質脳症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (PLOSL1) DAP12 [HSA:7305] [KO:K07992] (PLOSL2) TREM2 [HSA:54209] [KO:K14378] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A44.3 ICD-10: E75.2 MeSH: C536329 OMIM: 221770 618193 |
| 文献 | PMID:20500450 著者 Kaneko M, Sano K, Nakayama J, Amano N タイトル Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology. 雑誌 Neuropathology 30:463-70 (2010) DOI:10.1111/j.1440-1789.2010.01127.x PMID:20836191 著者 Bianchin MM, Martin KC, de Souza AC, de Oliveira MA, Rieder CR タイトル Nasu-Hakola disease and primary microglial dysfunction. 雑誌 Nat Rev Neurol 6:2 p following 523 (2010) DOI:10.1038/nrneurol.2010.17-c1 PMID:20301376 著者 Paloneva J, Autti T, Hakola P, Haltia MJ タイトル Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) 雑誌 GeneReviews (1993) |