| H01384 | |
| H number | H01384 |
| Name | Mitochondrial recessive ataxia syndrome |
| Description | 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. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | POLG [HSA:5428] [KO:K02332] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.21 ICD-10: G71.3 MeSH: C579922 C537583 OMIM: 607459 |
| Reference | PMID:12210792 AUTHORS Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M TITLE Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. JOURNAL Ann Neurol 52:211-9 (2002) DOI:10.1002/ana.10278 PMID:20513108 AUTHORS Weiss MD, Saneto RP TITLE Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. JOURNAL Muscle Nerve 41:882-5 (2010) DOI:10.1002/mus.21636 PMID:22616202 AUTHORS Gati I, Danielsson O, Jonasson J, Landtblom AM TITLE Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. JOURNAL Acta Myol 30:188-90 (2011) PMID:16080118 AUTHORS 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 TITLE Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. JOURNAL Am J Hum Genet 77:430-41 (2005) DOI:10.1086/444548 |