X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
Bela R TurkAnn B Moser

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 role 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 United States. 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.

References

Jun 1, 1976·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·A B JohnsonJ M Powers
Sep 1, 1975·Archives of Neurology·H H SchaumburgE P Richardson
Jul 1, 1976·Journal of Neurochemistry·M GarashiK Suzuki
Apr 1, 1976·Journal of Neurochemistry·M IgarashiK Suzuki
Nov 1, 1992·Journal of Neuropathology and Experimental Neurology·J M PowersH W Moser
Mar 1, 1991·Journal of Neurochemistry·O A BizzozeroM B Lees
Aug 1, 1985·Journal of the Neurological Sciences·C J ReineckeR H Simpson
Dec 1, 1973·The Journal of Pathology·A H WyllieA R Currie
May 1, 1974·Archives of Neurology·J M Powers, H H Schaumberg
Aug 1, 1981·Proceedings of the National Academy of Sciences of the United States of America·B R MigeonR A Norum
Jul 1, 1981·Journal of Neurochemistry·J K Yao, P J Dyck
Jun 1, 1980·Annals of Neurology·H W MoserY Kishimoto
Sep 9, 1993·The New England Journal of Medicine·W B Rizzo
Sep 3, 1996·Proceedings of the National Academy of Sciences of the United States of America·D LütjohannI Björkhem
Mar 27, 1997·Biochemical and Biophysical Research Communications·T KobayashiT Yamada
Aug 19, 1997·Proceedings of the National Academy of Sciences of the United States of America·J F LuK D Smith
Jan 7, 1998·Journal of Neuroscience Research·S Forss-PetterK A Nave
Sep 5, 1998·The New England Journal of Medicine·I SinghS Pai
Mar 9, 1999·Molecular Genetics and Metabolism·C D BoehmS S Chong
Apr 5, 2000·Journal of Neuropathology and Experimental Neurology·J M PowersH W Moser
Oct 12, 2000·Biochemical and Biophysical Research Communications·M Di PaolaM Lorusso
Feb 28, 2001·Annals of Neurology·B M van GeelG V Raymond
Mar 29, 2001·Pediatric Neurology·M L ChuH L Weiner
May 31, 2001·Journal of Neuropathology and Experimental Neurology·J M PowersH W Moser
Sep 18, 2001·Annals of Neurology·M Di RoccoU Caruso

❮ Previous
Next ❯

Citations

Jan 27, 2021·Academic Radiology·Christopher J HealdPaul M Bunch
Jan 1, 2021·Frontiers in Pediatrics·Federica BuonocoreJohn C Achermann

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

Related Papers

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Hong PanXi-ru Wu
Nihon rinsho. Japanese journal of clinical medicine
A Imamura, Yasuyuki Suzuki
Ryōikibetsu shōkōgun shirīzu
A Imamura
© 2021 Meta ULC. All rights reserved