Chronic progressive external ophthalmoplegia (CPEO): management
Evidence-based neurology checklist on chronic progressive external ophthalmoplegia (cpeo): management: Genetic mutations Polymerase gamma (POLG) Adenine nucleotide translocator 1 (ANT1) C10orf2: this encodes Twinkle SPG7: this is associated with a CPEO variant which manifests with spasticity…
Genetic mutations
- Polymerase gamma (POLG)
- Adenine nucleotide translocator 1 (ANT1)
- C10orf2: this encodes Twinkle
- SPG7: this is associated with a CPEO variant which manifests with spasticity
- MT-TL1: this is usually associated with MELAS
- C1QBP
Non-genetic investigations
Treatment
Acronyms
References
- McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009; 265:210-228.
- Horga A, Pitceathly RD, Blake JC, et al. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain 2014; 137:3200-3212.
- Hirano M, DiMauro S. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 2001; 57:2163-2165.
- Lönnqvist T, Paetau A, Valanne L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 2009; 132:1553-1562.
- Pfeffer G, Gorman GS, Griffin H, et al. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014; 137:1323-1336.
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