| H01384 | |
| H番号 | H01384 |
| 名称 | ミトコンドリア劣性運動失調症候群 |
| 概要 | Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO) and Spinocerebellar ataxia with epilepsy (SCAE). MIRAS is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. Most cases of SANDO present with an initial stage of sensory neuropathy, a second stage of progressive external ophahlmoplegia and dysarthria, which is then followed by other symptoms, often with epilepsia or myoclonus. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | - |
| 病因遺伝子 | POLG [HSA:5428] [KO:K02332] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.21 ICD-10: G71.3 MeSH: C579922 C537583 OMIM: 607459 |
| 文献 | PMID:12210792 著者 Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M タイトル Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 雑誌 Ann Neurol 52:211-9 (2002) DOI:10.1002/ana.10278 PMID:20513108 著者 Weiss MD, Saneto RP タイトル Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 雑誌 Muscle Nerve 41:882-5 (2010) DOI:10.1002/mus.21636 PMID:22616202 著者 Gati I, Danielsson O, Jonasson J, Landtblom AM タイトル Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 雑誌 Acta Myol 30:188-90 (2011) PMID:16080118 著者 Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A タイトル Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 雑誌 Am J Hum Genet 77:430-41 (2005) DOI:10.1086/444548 |