Mitochondrial recessive ataxia syndrome

Definition:

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.

References:

[1]. Anna H Hakonen, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005 Sep;77(3):430-41. [Content Brief]

[2]. Eleonora Lamantea, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol. 2002 Aug;52(2):211-9. [Content Brief]

[3]. Michael D Weiss, et al. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. Muscle Nerve. 2010 Jun;41(6):882-5. [Content Brief]

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