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Leukoencefalopatier (med debut i voksen alder)

Sist oppdatert: Sist revidert:
Sist revidert av:
  1. Lynch DS, Wade C, Paiva ARB, John N, Kinsella JA, Merwick Á, Ahmed RM, Warren JD, Mummery CJ, Schott JM, Fox NC, Houlden H, Adams ME, Davagnanam I, Murphy E, Chataway J. Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era. J Neurol Neurosurg Psychiatry. 2018 Nov 22. pii: jnnp-2018-319481. PMID: 30467211 PubMed  
  2. Ayrignac X, Nicolas G, Carra-Dallière C, Hannequin D, Labauge P.. Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review.. JAMA Neurol 2017. pmid:28628708 PubMed  
  3. Slama MCC, Torre M, Shatzman SM, Suh J, Krier JB, De Girolami U, Kimbrough DJ, Milligan TA. Clinical Reasoning: A 42-year-old woman with progressive cognitive difficulties and gait imbalance. Neurology. 2020 Mar 17;94(11):e1219-e1226. PMID: 32107324. PubMed  
  4. Williams T, Houlden H, Murphy E, John N, Fox NC, Schott JM, Adams M, Davagananam I, Chataway J, Lynch DS. How to diagnose difficult white matter disorders. Pract Neurol. 2020 Aug;20(4):280-286. PMID: 32434903. PubMed  
  5. Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM, Mummery CJ, Rohrer JD, Lachmann RH, Houlden H, Fox NC, Chataway J. A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry 2014; 85: 770-81. pmid:24357685 PubMed  
  6. Benzoni C, Moscatelli M, Fenu S, Venerando A, Salsano E. Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia. J Neurol. 2021 May;268(5):1972-1976. doi: 10.1007/s00415-020-10374-9. Epub 2021 Jan 8. Erratum in: J Neurol. 2021 Feb 23;: PMID: 33417004. PubMed  
  7. Benzoni C, Moscatelli M, Fenu S, Venerando A, Salsano E. Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia. J Neurol. 2021 May;268(5):1972-1976. Erratum in: J Neurol. 2021 Feb 23;: PMID: 33417004. PubMed  
  8. Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S. X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain 2014; 137: 693-706. pmid:24480483 PubMed  
  9. Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM.. Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance. Pediatr Neurol. 2013; 48: 212-9. pmid:23419472 PubMed  
  10. Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS. Clinical and radiographic course of arrested cerebral adrenoleukodystrophy. Neurology. 2020 Jun 16;94(24):e2499-e2507. PMID: 32482842 PubMed  
  11. Matsukawa T, Yamamoto T, Honda A, Toya T, Ishiura H, Mitsui J, Tanaka M, Hao A, Shinohara A, Ogura M, Kataoka K, Seo S, Kumano K, Hosoi M, Narukawa K, Yasunaga M, Maki H, Ichikawa M, Nannya Y, Imai Y, Takahashi T, Takahashi Y, Nagasako Y, Yasaka K, Mano KK, Matsukawa MK, Miyagawa T, Hamada M, Sakuishi K, Hayashi T, Iwata A, Terao Y, Shimizu J, Goto J, Mori H, Kunimatsu A, Aoki S, Hayashi S, Nakamura F, Arai S, Momma K, Ogata K, Yoshida T, Abe O, Inazawa J, Toda T, Kurokawa M, Tsuji S. Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy. Brain Commun. 2020 Jan 14;2(1):fcz048. PMID: 32954314 PubMed  
  12. Ahmad O, Rowe DB.. Adult-onset Alexander's disease mimicking degenerative disease.. Pract Neurol 2015; Oct;15(5): 393-5.. pmid:26023202 PubMed  
  13. Liu Y, Zhou H, Wang H, Gong X, Zhou A, Zhao L, Li X, Zhang X. Atypical MRI features in familial adult onset Alexander disease: case report. BMC Neurol. 2016 Nov 4;16(1):211 . pmid:27814755 PubMed  
  14. Yoshida T, Mizuta I, Yasuda R, Mizuno T. Clinical and radiological characteristics of older-adult-onset Alexander disease. Eur J Neurol. 2021 Nov;28(11):3760-3767. PMID: 34245630. PubMed  
  15. Cho BPH, Nannoni S, Harshfield EL, Tozer D, Gräf S, Bell S, Markus HS. NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants. J Neurol Neurosurg Psychiatry. 2021 Jul;92(7):694-701. PMID: 33712516 PubMed  
  16. Chabriat H, Joutel A, Tournier-Lasserve E, Bousser MG. CADASIL: yesterday, today, tomorrow. Eur J Neurol. 2020 Aug;27(8):1588-1595. PMID: 32348626. PubMed  
  17. Liao YC, Hu YC, Chung CP, Wang YF, Guo YC, Tsai YS, Lee YC. Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prevalence, Clinical and Neuroimaging Features and Risk Factors. Stroke. 2021 Mar;52(3):985-993. PMID: 33535780. PubMed  
  18. Boucher AA1, Miller W2, Shanley R3, Ziegler R4, Lund T5, Raymond G6, Orchard PJ7.. Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report. Orphanet J Rare Dis. 2015. pmid:26245762 PubMed  
  19. Biffi A, Aubourg P, Cartier N. Gene therapy for leukodystrophies. Hum Mol Genet 2011; 20: R42-53. PMID:21459776 PubMed  
  20. Raymond GV, Schiffmann R. Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. Neurology. 2019 Jan 8;92(2):61-62. PMID: 30530794 PubMed  
  21. Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. Neurology. 2019 Jan 8;92(2):e83-e95. PMID: 30530799 PubMed  
  22. Stelten BML, Dotti MT, Verrips A, Elibol B, Falik-Zaccai TC, Hanman K, Mignarri A, Sithole B, Steiner RD, Verma S, Yahalom G, Zubarioglu T, Mochel F, Federico A. Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study. Orphanet J Rare Dis. 2021 Aug 6;16(1):353. PMID: 34362411 PubMed  
  23. Baghbanian SM, Mahdavi Amiri MR, Majidi H. Cerebrotendinous xanthomatosis revisited. Pract Neurol. 2021 Jun;21(3):243-245. PMID: 33853856. PubMed  
  24. Konno T1,2, Yoshida K3, Mizuta I4, Mizuno T4, Kawarai T5, Tada M2, Nozaki H6, Ikeda SI7, Onodera O2, Wszolek ZK1, Ikeuchi T8.. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol. 2017. pmid:28921817 PubMed  
  25. Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol 2014. pmid:25311247 PubMed  
  26. Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology 2015; 84: 226-30. pmid:25527264 PubMed  
  27. Chiapparini L, Cavalli G, Langella T, Venerando A, De Luca G, Raspante S, Marotta G, Pollo B, Lauria G, Cangi MG, Gerevini S, Botturi A, Pareyson D, Dagna L, Salsano E. Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease. J Neurol. 2018 Feb;265(2):273-284. PMID: 29204962 PubMed  
  28. Simpson HD, Aksamit AJ, Zalewski NL. Longitudinally Extensive Spinal Cord Lesion in Erdheim-Chester Disease. JAMA Neurol. 2020 Jul 27. PMID: 32716494. PubMed  
  29. Raynowska J, Miskin DP, Pramanik B, Asiry S, Anderson T, Boockvar J, Najjar S, Harel A. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): A rare mimic of tumefactive MS. Neurology. 2018 Oct 9;91(15):e1423-e1428. PMID: 30194247 PubMed  
  30. Ford AL, Chin VW, Fellah S, Binkley MM, Bodin AM, Balasetti V, Taiwo Y, Kang P, Lin D, Jen JC, Grand MG, Bogacki M, Liszewski MK, Hourcade D, Chen Y, Hassenstab J, Lee JM, An H, Miner JJ, Atkinson JP. Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy. Neurology. 2020 Oct 6;95(14):e1918-e1931. PMID: 32887784.
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med