Results 51 to 60 of about 29,741 (152)

Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions [PDF]

Journal of Child Neurology
Florian S Eichler, Joshua L Bonkowsky, Troy C Lund   +2 more
exaly   +2 more sources

Loss of AMP-Activated Protein Kinase Induces Mitochondrial Dysfunction and Proinflammatory Response in Unstimulated Abcd1-Knockout Mice Mixed Glial Cells

Mediators of Inflammation, 2015
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations and/or deletions in the ABCD1 gene. Similar mutations/deletions can give rise to variable phenotypes ranging from mild adrenomyeloneuropathy (AMN) to inflammatory fatal cerebral ...
Jaspreet Singh, Hamid Suhail, Shailendra Giri   +2 more
doaj   +1 more source

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

International Journal of Neonatal Screening, 2022
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid,
Tarek A. Teber, Brian J. Conti, Christopher A. Haynes, Amy Hietala, Mei W. Baker   +4 more
doaj   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2114-2123, October 2026.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

X-linked adrenoleukodystrophy: pathogenesis and treatment

, 2014
X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues.
Engelen, Marc, Kemp, Stephan, Poll-The, Bwee-Tien   +2 more
core   +1 more source

Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye, Mujaheed Suleman, Jay Lodhia   +2 more
wiley   +1 more source

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Lihong Huang, Peng Cheng, Guangdong Liu, Yang Xiang, Zhen Hong, Weidong Le   +5 more
wiley   +1 more source

Evolution of adrenoleukodystrophy model systems

, 2021
X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder affecting the adrenal glands, testes, spinal cord and brain. The disease is caused by mutations in the ABCD1 gene resulting in a defect in peroxisomal degradation of very long-chain fatty ...
Roberto Montoro, Stephan Kemp, Engelen, Marc, Marc Engelen, Kemp, Stephan, Heine, Vivi M, Vivi M. Heine, Heine, Vivi M.; id_orcid, Heine, Vivi M., Montoro, Roberto   +9 more
core   +1 more source

ABCD1 Gene Mutations in Chinese Patients with ALD

Pediatric Neurology Briefs, 2005
Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC.
J Gordon Millichap
doaj   +1 more source

A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease

Indian Journal of Psychiatry, 2016
Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years.
K. S. Jyothi, Cyriac George, K. S. Shaji
doaj   +1 more source