| H01478 | |
| H number | H01478 |
| Name | Machado-Joseph disease; Spinocerebellar ataxia 3 |
| Description | 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. |
| Category | Neurodegenerative disease |
| Network | - |
| Gene | ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00063 Spinocerebellar ataxia (SCA) |
| Other DBs | ICD-11: 8A03.16 ICD-10: G11.8 MeSH: D017827 OMIM: 109150 |
| Reference | PMID:21635785 AUTHORS Bettencourt C, Lima M TITLE Machado-Joseph Disease: from first descriptions to new perspectives. JOURNAL Orphanet J Rare Dis 6:35 (2011) DOI:10.1186/1750-1172-6-35 PMID:21827905 AUTHORS Paulson H TITLE Machado-Joseph disease/spinocerebellar ataxia type 3. JOURNAL Handb Clin Neurol 103:437-49 (2012) DOI:10.1016/B978-0-444-51892-7.00027-9 PMID:11461169 AUTHORS Sakai T TITLE Effects of tetrahydrobiopterin on ataxia in Machado-Joseph disease may be based upon the theory of 'cerebellar long-term depression'. JOURNAL Med Hypotheses 57:180-2 (2001) DOI:10.1054/mehy.2001.1293 PMID:15876340 AUTHORS Liu CS, Hsu HM, Cheng WL, Hsieh M TITLE Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy. JOURNAL Acta Neurol Scand 111:385-90 (2005) DOI:10.1111/j.1600-0404.2005.00405.x PMID:19050414 AUTHORS Zesiewicz TA, Sullivan KL TITLE Treatment of ataxia and imbalance with varenicline (chantix): report of 2 patients with spinocerebellar ataxia (types 3 and 14). JOURNAL Clin Neuropharmacol 31:363-5 (2008) DOI:10.1097/WNF.0b013e31818736a9 |