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Page 1
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and primary adrenal …
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical sy …
E.U. paediatric MOG consortium consensus: Part 1 - Classification of clinical phenotypes of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Bruijstens AL, Lechner C, Flet-Berliac L, Deiva K, Neuteboom RF, Hemingway C, Wassmer E; E.U. paediatric MOG consortium; Baumann M, Bartels F, Finke C, Adamsbaum C, Hacohen Y, Rostasy K. Bruijstens AL, et al. Eur J Paediatr Neurol. 2020 Nov;29:2-13. doi: 10.1016/j.ejpn.2020.10.006. Epub 2020 Nov 4. Eur J Paediatr Neurol. 2020. PMID: 33162302 Free article. Review.
More recently, the disease spectrum has been expanded with clinical and radiological phenotypes including encephalitis-like, leukodystrophy-like, and other non-classifiable presentations. This review concludes with recommendations following expert consensus on serologic te …
More recently, the disease spectrum has been expanded with clinical and radiological phenotypes including encephalitis-like, leukodystrop …
Newborn screening for adrenoleukodystrophy: International experiences and challenges.
Videbæk C, Melgaard L, Lund AM, Grønborg SW. Videbæk C, et al. Mol Genet Metab. 2023 Dec;140(4):107734. doi: 10.1016/j.ymgme.2023.107734. Epub 2023 Nov 10. Mol Genet Metab. 2023. PMID: 37979237 Free article. Review.
X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. It has an estimated incidence of around 1/17.000, and a variable phenotype. ...
X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. It has an estimated incidence of around 1/17.000, and a varia …
Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury AM, Ream MA. Bradbury AM, et al. Semin Pediatr Neurol. 2021 Apr;37:100876. doi: 10.1016/j.spen.2021.100876. Epub 2021 Feb 10. Semin Pediatr Neurol. 2021. PMID: 33892849 Review.
As treatment options continue to advance for leukodystrophies, so will candidacy for inclusion in the United States' newborn Recommended Universal Screening Panel as was achieved for X-linked adrenoleukodystrophy. Stem cell therapies have become standard of care for …
As treatment options continue to advance for leukodystrophies, so will candidacy for inclusion in the United States' newborn Recommended Uni …
Newborn screening of neuromuscular diseases.
Dangouloff T, Boemer F, Servais L. Dangouloff T, et al. Neuromuscul Disord. 2021 Oct;31(10):1070-1080. doi: 10.1016/j.nmd.2021.07.008. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34620514 Free article. Review.
We found seven diseases for which newborn screening data were reported: spinal muscular atrophy (9), Duchenne muscular dystrophy (9), Pompe disease (8), X-linked adrenoleukodystrophy (5), Krabbe disease (4), myotonic dystrophy type 1 (1), metachromatic leukodystrophy (1). …
We found seven diseases for which newborn screening data were reported: spinal muscular atrophy (9), Duchenne muscular dystrophy (9), Pompe …
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S. Albersen M, et al. J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26. J Inherit Metab Dis. 2023. PMID: 36256460 Free PMC article.
Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty acids (VLCFA), including C …
Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy …
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
Ramirez Alcantara J, Grant NR, Sethuram S, Nagy A, Becker C, Sahai I, Stanley T, Halper A, Eichler FS. Ramirez Alcantara J, et al. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1306-e1315. doi: 10.1210/clinem/dgad286. J Clin Endocrinol Metab. 2023. PMID: 37220095 Free PMC article.
DESIGN: We conducted a retrospective medical chart review of pediatric patients with ALD. SETTING: All patients were seen in a leukodystrophy clinic in an academic medical center. PATIENTS: We included all pediatric patients with ALD who were seen between May 2006 and Janu …
DESIGN: We conducted a retrospective medical chart review of pediatric patients with ALD. SETTING: All patients were seen in a leukodystr …
Gene therapy for primary immunodeficiency.
Booth C, Romano R, Roncarolo MG, Thrasher AJ. Booth C, et al. Hum Mol Genet. 2019 Oct 1;28(R1):R15-R23. doi: 10.1093/hmg/ddz170. Hum Mol Genet. 2019. PMID: 31297531 Review.
Gene therapy is now being trialled as a therapeutic option for an expanding number of conditions, based primarily on the successful treatment over the past two decades of patients with specific primary immunodeficiencies (PIDs) including severe combined immunodefici …
Gene therapy is now being trialled as a therapeutic option for an expanding number of conditions, based primarily on the succe …
Utility of genetic testing in children with leukodystrophy.
Zerem A, Libzon S, Ben Sira L, Meirson H, Hausman-Kedem M, Haviv N, Yosovich K, Mory A, Baris Feldman H, Lev D, Lerman-Sagie T, Fattal-Valevski A, Hacohen Y, Marom D. Zerem A, et al. Eur J Paediatr Neurol. 2023 Jul;45:29-35. doi: 10.1016/j.ejpn.2023.05.008. Epub 2023 May 27. Eur J Paediatr Neurol. 2023. PMID: 37267771
We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective cohort of children with suspected leukodystrophy. METHODS: Medical records of patients who attended the leukodystrophy clinic at the Dana-Dwek Children's Hospital between Ju …
We aimed to evaluate the utility of genetic testing and time-to-diagnosis in a retrospective cohort of children with suspected leukodystr …
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium. Adang LA, et al. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. Mol Genet Metab. 2017. PMID: 28863857 Free PMC article.
The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial …
The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Conta …
95 results