Leukoencefalopatier (med debut i voksen alder)
Sist oppdatert: Sist revidert:
Sist revidert av:Unn Ljøstad
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- 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
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- 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
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- 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
- 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
- Ahmad O, Rowe DB.. Adult-onset Alexander's disease mimicking degenerative disease.. Pract Neurol 2015; Oct;15(5): 393-5.. pmid:26023202 PubMed
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- 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
- 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
- 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
- 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
- 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
- Biffi A, Aubourg P, Cartier N. Gene therapy for leukodystrophies. Hum Mol Genet 2011; 20: R42-53. PMID:21459776 PubMed
- Raymond GV, Schiffmann R. Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. Neurology. 2019 Jan 8;92(2):61-62. PMID: 30530794 PubMed
- 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
- 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
- Baghbanian SM, Mahdavi Amiri MR, Majidi H. Cerebrotendinous xanthomatosis revisited. Pract Neurol. 2021 Jun;21(3):243-245. PMID: 33853856. PubMed
- 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
- 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
- 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
- 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
- Simpson HD, Aksamit AJ, Zalewski NL. Longitudinally Extensive Spinal Cord Lesion in Erdheim-Chester Disease. JAMA Neurol. 2020 Jul 27. PMID: 32716494. PubMed
- 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
- 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