Mitokondriesykdommer
Sist oppdatert: Sist revidert:
Sist revidert av:Åse Mygland
- Laurence Bindoff, Seksjon for nevrologi, Haukeland Universitetssjukehus, 5021 Bergen. Tlf 55975045 (ekspedisjon)
- Kompetansesenter for medfødte stoffskiftesykdommer (https://oslo-universitetssykehus.no/avdelinger/barne-og-ungdomsklinikken/nasjonal-kompetansetjeneste-for-medfodte-stoffskiftesykdommer )
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Martikainen MH, Chinnery PF. Mitochondrial disease: mimics and chameleons. Pract Neurol. 2015 Jul 22. pii: practneurol-2015-001191 . pmid:26201977 PubMed
- Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. J Neurol. 2015 Aug 28. pmid:26315846 PubMed
- 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.
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Hammans SR MD. Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE). Pract Neurol. 2020. PMID: 32980811. PubMed
- 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
- 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
- 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
- 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
- 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
- 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.
- 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
- 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