Magnetic resonance spectroscopy as marker for neurodegeneration in X-linked adrenoleukodystrophy

Autor: Stephanie I.W. van de Stadt, Anouk Schrantee, Irene C. Huffnagel, Wouter J.C. van Ballegoij, Matthan W.A. Caan, Petra J.W. Pouwels, Marc Engelen

Publikováno v: NeuroImage: Clinical, Vol 32, Iss , Pp 102793- (2021)

X-linked adrenoleukodsytrophy (ALD) is a genetic neuro-metabolic disorder, causing a slowly progressive myelopathy in adult male and female patients. New disease modifying therapies for myelopathy are under development. This calls for new (imaging) m

Externí odkaz: https://doaj.org/article/92020ecf7dc749f7a2bb82dedc1767d4

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach

Autor: Marc Engelen, Wouter J.C. van Ballegoij, Eric James Mallack, Keith P. Van Haren, Wolfgang Köhler, Ettore Salsano, A.S.P. van Trotsenburg, Fanny Mochel, Caroline Sevin, Molly O Regelman, Nicholas A Tritos, Alyssa Halper, Robin H Lachmann, James Davison, Gerald V. Raymond, Troy Lund, Paul J. Orchard, Joern-Sven Kuehl, Caroline A. Lindemans, Paul Caruso, Bela Rui Turk, Ann B. Moser, Frederic M Vaz, Sacha Ferdinandusse, Stephan Kemp, Ali Fatemi, Florian S. Eichler, Irene C. Huffnagel

Publikováno v: Engelen, M, van Ballegoij, W J C, Mallack, E J, van Haren, K P, Köhler, W, Salsano, E, van Trotsenburg, A S P, Mochel, F, Sevin, C, Regelmann, M O, Tritos, N A, Halper, A, Lachmann, R H, Davison, J, Raymond, G V, Lund, T C, Orchard, P J, Kuehl, J-S, Lindemans, C A, Caruso, P, Turk, B R, Moser, A B, Vaz, F M, Ferdinandusse, S, Kemp, S, Fatemi, A, Eichler, F S & Huffnagel, I C 2022, ' International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy : A Consensus-Based Approach ', Neurology, vol. 99, no. 21, pp. 940-951 . https://doi.org/10.1212/WNL.0000000000201374
Neurology, 99(21), 940-951. Lippincott Williams and Wilkins

Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by three core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f63f277fafcae3966c6a9313711633b
https://pubmed.ncbi.nlm.nih.gov/36175155