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Mitokondriesykdommer

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Hikmat O, Varhaug KN, Bindoff LA. Polymerase gamma-relatert mitokondriesykdom Polymerase gamma-related mitochondrial disorder. Tidsskr Nor Laegeforen. 2020 Jan 13;140(1). Norwegian. doi: 10.4045/tidsskr.19.0368. PMID: 31948198. PubMed  
  2. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. J Inherit Metab Dis. 2020 Jul;43(4):726-736. doi: 10.1002/jimd.12211. Epub 2020 Jan 23. PMID: 32391929. PubMed  
  3. Varhaug KN, Hikmat O, Bindoff LA. Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen Mitochondrial disease caused by the m.3243A>G mutation. Tidsskr Nor Laegeforen. 2022 Jun 27;142(10). Norwegian. doi: 10.4045/tidsskr.21.0729. PMID: 35763848. PubMed  
  4. Renard D, Taieb G.. Neurological picture. Cortical susceptibility-weighted imaging hypointensity after stroke-like episode in MELAS.. J Neurol Neurosurg Psychiatry. ; Sep;85(9):: 1055-6. pmid:24296732 PubMed  
  5. Löffler M, Gamroth C, Becker S, Flor H. Chronic pain as a neglected core symptom in mitochondrial diseases. Neurology. 2020 Feb 25;94(8):357-359. PMID: 32015173. PubMed  
  6. van den Ameele J, Fuge J, Pitceathly RDS, Berry S, McIntyre Z, Hanna MG, Lee M, Chinnery PF. Chronic pain is common in mitochondrial disease. Neuromuscul Disord. 2020 May;30(5):413-419. PMID: 32334903 PubMed  
  7. Ng YS, Turnbull DM. When to think about mitochondrial disease. Pract Neurol. 2020 Aug;20(4):260-261. doi: 10.1136/practneurol-2020-002501. Epub 2020 Jul 17. PMID: 32680831. PubMed  
  8. Martikainen MH, Chinnery PF. Mitochondrial disease: mimics and chameleons. Pract Neurol. 2015 Jul 22. pii: practneurol-2015-001191 . pmid:26201977 PubMed  
  9. Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. J Neurol. 2015 Aug 28. pmid:26315846 PubMed  
  10. Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. PMID: 34146515.
  11. Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. Lancet Neurol. 2011 Sep;10(9):806-18. PMID: 21820356 PubMed  
  12. Baertling F1, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F.. A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 2014. pmid:23772060 PubMed  
  13. Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lönnqvist T, Bindoff LA, Tulinius M, Darin N. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.J Med Genet. 2018 Jan;55(1):21-27. PMID: 29101127 PubMed  
  14. Fortes B, Chen JJ, Bhatti MT. Clinical Reasoning: A 31-Year-Old Man With Sequential Vision Loss. Neurology. 2021 Nov 19:10.1212/WNL.0000000000013084. PMID: 34799463. PubMed  
  15. Nasir M, Nortey D, Malek N, Valerio F, Chaudhuri A. Amyloid-beta-related angiitis: a treatable rapidly progressive dementia. Pract Neurol. 2022 Jun;22(3):228-230. doi: 10.1136/practneurol-2021-003263. Epub 2022 Mar 9. PMID: 35264447. PubMed  
  16. Abkur T, Cleaver J, Sharma K. A cause of encephalopathy not to be missed. Pract Neurol. 2022 Apr 5:practneurol-2022-003389. doi: 10.1136/practneurol-2022-003389. Epub ahead of print. PMID: 35383120. PubMed  
  17. Marques-Matos C, Reis J, Reis C, Castro L, Carvalho M. Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. JAMA Neurol. 2016 Mar 7 . pmid:26953663 PubMed  
  18. Tzoulis C, Henriksen E, Miletic H, Bindoff LA. No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion. 2017 Jan;32:10-15. PMID: 27838477 PubMed  
  19. Hammans SR MD. Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE). Pract Neurol. 2020. PMID: 32980811. PubMed  
  20. Koga Y, Povalko N, Inoue E, Nakamura H, Ishii A, Suzuki Y, Yoneda M, Kanda F, Kubota M, Okada H, Fujii K. Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research. J Neurol. 2018 Dec;265(12):2861-2874. PMID: 30269300 PubMed  
  21. Nightingale H, Pfeffer G, Bargiela D, Horvath R, Chinnery PF. Emerging therapies for mitochondrial disorders. Brain. 2016 Jun;139(Pt 6):1633-48 . pmid: 27190030 PubMed  
  22. Koenig MK et al. Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. JAMA Neurol. 2016. pmid:26954033 PubMed  
  23. Kitamura M, Yatsuga S, Abe T, Povalko N, Saiki R, Ushijima K, Yamashita Y, Koga Y. L-Arginine intervention at hyper-acute phase protects the prolonged MRI abnormality in MELAS. J Neurol. 2016 Aug;263(8):1666-8 . pmid:27334908 PubMed  
  24. Stefanetti RJ, Ng YS, Errington L, Blain AP, McFarland R, Gorman GS. l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review. Neurology. 2022 Jun 7;98(23):e2318-e2328. doi: 10.1212/WNL.0000000000200299. Epub 2022 Apr 15. PMID: 35428733 PubMed  
  25. Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. PMID: 32090171; PMCID: PMC7014928.
  26. Brierley EJ, Johnson MA, James OF, Turnbull DM. Effects of physical activity and age on mitochondrial function.QJM. 1996 Apr;89(4):251-8. PMID: 8733511 PubMed  
  27. Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. J Neurol Neurosurg Psychiatry 2014. pmid:25118206 PubMed  
  • Åse Mygland, spesialist i nevrologi, professor dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Kristin Nielsen Varhaug, Lege i spesialisering nevrologi