Mitochondrial polymerase gamma (POLG): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Mitochondrial polymerase gamma (POLG): management. Thalamus: dorsomedial, Cerebellar dentate nuclei. Fully referenced neurology checklist.
Magnetic resonance imaging (MRI): sites of T2 hyperintensity
- Thalamus: dorsomedial
- Cerebellar dentate nuclei
- Cerebellar white matter
- Inferior olivary nuclei
- Occipital cortex
- Pre-Rolandic area: the pre-Rolandic sign
Magnetic resonance imaging (MRI): other features
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Muscle biopsy: features
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Electroencephalogram (EEG)
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Treatment
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References
- Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M. Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia. Neurol Genet 2017; 3:e181.
- Uusimaa J, Gowda V, McShane A, et al. Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Epilepsia 2013; 54:1002-1011.
- Winterthun S, Ferrari G, He L, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005; 64:1204-1208.
- Henao AI, Pira S, Herrera DA, Vargas SA, Montoya J, Castillo M. Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. Neuroradiol J 2016; 29:46-48.
- Carvalho Araújo L, Lopes Tenório de Cerqueira IC, de Aguiar Coelho Silva Madeiro B. Teaching NeuroImage: Notable MRI findings in sensory ataxia neuropathy, dysarthria, and ophthalmoplegia (SANDO), a POLG-related disorder. Neurology 2025; 104:e210227.
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