| H01177 | |
| H番号 | H01177 |
| 名称 | 乳児両側性線条体壊死 |
| 概要 | Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in the adenosine triphosphatase 6 gene (complex V) have been described in families with mitochondrial inheritance, while there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | A report says oral biotin may have benefited. |
| リンク | ICD-11: 8D87.01 ICD-10: G23.2 MeSH: C537500 OMIM: 271930 500003 |
| 文献 | PMID:16786527 著者 Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M タイトル Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 雑誌 Ann Neurol 60:214-22 (2006) DOI:10.1002/ana.20902 PMID:14718703 著者 Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M タイトル Infantile bilateral striatal necrosis maps to chromosome 19q. 雑誌 Neurology 62:87-90 (2004) DOI:10.1212/01.WNL.0000101680.49036.69 PMID:12374138 著者 Straussberg R, Shorer Z, Weitz R, Basel L, Kornreich L, Corie CI, Harel L, Djaldetti R, Amir J タイトル Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. 雑誌 Neurology 59:983-9 (2002) DOI:10.1212/WNL.59.7.983 PMID:16198210 著者 Murakami A, Morimoto M, Adachi S, Ishimaru Y, Sugimoto T タイトル Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection. 雑誌 Brain Dev 27:527-30 (2005) DOI:10.1016/j.braindev.2004.12.004 PMID:7668837 著者 Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S タイトル A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 雑誌 Ann Neurol 38:468-72 (1995) DOI:10.1002/ana.410380321 |