@article{dc6a637d909c407d8f86f60e1e771704,
title = "X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies",
abstract = "Adrenoleukodystrophy (ALD) is a rare X-linked disease caused by a mutation of the peroxisomal ABCD1 gene. This review summarizes our current understanding of the pathogenic cell- and tissue-specific roles of lipid species in the context of experimental therapeutic strategies and provides an overview of critical historical developments, therapeutic trials and the advent of newborn screening in the USA. In ALD, very long-chain fatty acid (VLCFA) chain length-dependent dysregulation of endoplasmic reticulum stress and mitochondrial radical generating systems inducing cell death pathways has been shown, providing the rationale for therapeutic moiety-specific VLCFA reduction and antioxidant strategies. The continuing increase in newborn screening programs and promising results from ongoing and recent therapeutic investigations provide hope for ALD.",
keywords = "X-linked adrenoleukodystrophy, clinical trials, inflammation, newborn screening, therapy, very long-chain fatty acids",
author = "Turk, {Bela R.} and Christiane Theda and Ali Fatemi and Moser, {Ann B.}",
note = "Funding Information: Funding information Equipment and partial salary support for AM and AF was provided by the Intellectual and Developmental Disabilities Research Centers at the Kennedy Krieger Institute and Johns Hopkins University, Grant/Award Number: NICHD U54HD079123 We thank patients and their families for participation in the many studies and clinical trials described in this review. We are grateful for the helpful comments of our research collaborators and mentors as we prepared this review paper. We also thank the Aidan Jack Seeger Foundation, ALD Connect, the Leukodystrophy Care Network (LCN), Hunters Hope, Stop ALD, the United Leukodystrophy Foundation and Brian's Hope for their ongoing support in developing the guidelines for surveillance of ALD boys identified by newborn screening for ALD. Funding Information: Equipment and partial salary support for AM and AF was provided by the Intellectual and Developmental Disabilities Research Centers at the Kennedy Krieger Institute and Johns Hopkins University, Grant/Award Number: NICHD U54HD079123 Publisher Copyright: {\textcopyright} 2020 The Authors. International Journal of Developmental Neuroscience published by John Wiley & Sons Ltd on behalf of International Society for Developmental Neuroscience",
year = "2020",
month = feb,
day = "1",
doi = "10.1002/jdn.10003",
language = "English (US)",
volume = "80",
pages = "52--72",
journal = "International Journal of Developmental Neuroscience",
issn = "0736-5748",
publisher = "Elsevier Limited",
number = "1",
}