| H01478 | |
| H番号 | H01478 |
| 名称 | マチャドジョセフ病 |
| 概要 | Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative disorder, involving predominantly the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Minor, but more specific, features such as external progressive ophthalmoplegia (EPO), dystonia, intention fasciculation-like movements of facial and lingual muscles, as well as bulging eyes, may also be of major importance for the clinical diagnosis of MJD. The mean age at onset is around 40 years. MJD is associated with CAG repeat expansions in the ATXN3 gene. CAG repeat varies in size among affected persons. There is no effective treatment of ataxia. Case series and small controlled trials of several medications including antianxiolytics, antidepressants, and antiepileptics have shown limited efficacy. |
| カテゴリ | 神経変性疾患 |
| ネットワーク | - |
| 病因遺伝子 | ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00063 Spinocerebellar ataxia (SCA) |
| リンク | ICD-11: 8A03.16 ICD-10: G11.8 MeSH: D017827 OMIM: 109150 |
| 文献 | PMID:21635785 著者 Bettencourt C, Lima M タイトル Machado-Joseph Disease: from first descriptions to new perspectives. 雑誌 Orphanet J Rare Dis 6:35 (2011) DOI:10.1186/1750-1172-6-35 PMID:21827905 著者 Paulson H タイトル Machado-Joseph disease/spinocerebellar ataxia type 3. 雑誌 Handb Clin Neurol 103:437-49 (2012) DOI:10.1016/B978-0-444-51892-7.00027-9 PMID:11461169 著者 Sakai T タイトル Effects of tetrahydrobiopterin on ataxia in Machado-Joseph disease may be based upon the theory of 'cerebellar long-term depression'. 雑誌 Med Hypotheses 57:180-2 (2001) DOI:10.1054/mehy.2001.1293 PMID:15876340 著者 Liu CS, Hsu HM, Cheng WL, Hsieh M タイトル Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy. 雑誌 Acta Neurol Scand 111:385-90 (2005) DOI:10.1111/j.1600-0404.2005.00405.x PMID:19050414 著者 Zesiewicz TA, Sullivan KL タイトル Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14). 雑誌 Clin Neuropharmacol 31:363-5 (2008) DOI:10.1097/WNF.0b013e31818736a9 |