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Nevrodegenerasjon med jernavleiring (NBIA)

Sist oppdatert: Publisert:
Sist revidert av:
  1. Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C. Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force. Mov Disord 2017. pmid:28513081 PubMed  
  2. Schneider SA. Neurodegenerations with Brain Iron Accumulation. Curr Neurol Neurosci Rep 2016. pmid:26739693 PubMed  
  3. Wiethoff S, Houlden H. Neurodegeneration with brain iron accumulation. Handb Clin Neurol 2017. pmid:28987166 PubMed  
  4. Batla A, Gaddipati C. Neurodegeneration with Brain Iron Accumulation. Ann Indian Acad Neurol. 2019 Jul-Sep;22(3):267-276. PMID: 31359936 PubMed  
  5. Lee JH, Yun JY, Gregory A, Hogarth P, Hayflick SJ. Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation. Front Neurol 2020. pmid:33013674 PubMed  
  6. Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Lancet Neurol. 2019 Jul;18(7):631-642. PMID: 31202468. PubMed  
  7. Iankova V, Karin I, Klopstock T, Schneider SA. Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. 2021 Apr 15;12:629414. PMID: 33935938 PubMed  
  8. Karin I, Büchner B, Gauzy F, Klucken A, Klopstock T. Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. 2021 Feb 22;12:642228. PMID: 33692746 PubMed  
  9. Hayflick SJ, Jeong SY, Sibon OCM. PKAN pathogenesis and treatment. Mol Genet Metab. 2022 Oct 5;137(3):283-291. doi: 10.1016/j.ymgme.2022.09.011. Epub ahead of print. PMID: 36240582 PubMed  
  10. Marchi G, Busti F, Lira Zidanes A, Castagna A, Girelli D. Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis. Front Neurosci. 2019 Apr 5;13:325. PMID: 31024241 PubMed  
  • Åse Mygland, spesialist i nevrologi, professor dr med
  • Unn Ljøstad, spesialist i nevrologi, professor PhD