Results 61 to 70 of about 4,338 (139)

Advances in the treatment of adrenoleukodystrophy

Shanghai Jiaotong Daxue xuebao. Yixue ban
Adrenoleukodystrophy (ALD) is an X-linked, potentially fatal peroxisome disease, characterized by three main clinical phenotypes: adrenomyeloneuropathy (AMN), cerebral adrenoleukodystrophy (CALD), and primary adrenal insufficiency.
LIU Xiaoli, CAO Li
doaj   +1 more source

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review

Molecular Genetics &Genomic Medicine, Volume 12, Issue 7, July 2024.
Abstract Background X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare. Case Presentation In this study, we reported a plateau male worker of X‐ALD characterized by progressive weakness accompanied by gait instability, mild nystagmus ...
Yulai Kang, Lu Guo, Zhuo Min, Lei Zhang, Lili Zhang, Chunhua Tang   +5 more
wiley   +1 more source

Adrenomyeloneuropathy, a Dynamic Progressive Disorder: Brain Magnetic Resonance Imaging of Two Cases

, 2009
Adrenomyeloneuropathy (AMN) is a phenotype variant of X- linked adrenoleukodystrophy. We present two patients with adult-onset AMN who were initially suspected to have demyelinating disorders radiologically and finally diagnosed on the basis of ...
莫元亨;陳雅芳;廖漢文, MO, YUAN-HENG;CHEN, YA-FANG;LIU, HON-MAN   +1 more
core  

Clinical pharmacokinetics of leriglitazone and a translational approach using PBPK modeling to guide the selection of the starting dose in children

CPT: Pharmacometrics &Systems Pharmacology, Volume 13, Issue 6, Page 982-993, June 2024.
Abstract Leriglitazone is a unique peroxisome proliferator‐activated receptor‐gamma (PPARγ) agonist that crosses the blood–brain barrier in humans and clinical trials have shown evidence of efficacy in neurodegenerative diseases. At clinical doses which are well‐tolerated, leriglitazone reaches the target central nervous system (CNS) concentrations ...
Estefania Traver, Laura Rodríguez‐Pascau, Uwe Meya, Guillem Pina, Silvia Pascual, Sonia Poli, David Eckland, Jeroen van de Wetering, Alice Ke, Andreas Lindauer, Marc Martinell, Pilar Pizcueta   +11 more
wiley   +1 more source

Data from: Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy

, 2019
Pearls: Defects in peroxisomal transport interferes with β-oxidation of very long chain fatty acids (VLCFAs). Subsequent VLCFA accumulation triggers a cascade of events that eventually leads to adrenoleukodystrophy (ALD).
Iglesias, Alejandro D., Mallack, Eric J., Bain, Jennifer M., Heshmati, Arezou, Lin, Jieru E., Armour, Eric A., Couto, Julia J., Umandap, Christine   +7 more
core   +1 more source

Lipid signature in X-ALD: a comparison between phenotypes

Frontiers in Molecular Biosciences
BackgroundX-linked adrenoleukodystrophy (X-ALD) has highly variable phenotypes with no known genotype/phenotype correlation or method for predicting the course of the disease.
Alessandra Di Veroli, Sara Petrillo, Caterina Torda, Federica Loia, Teresa Rizza, Rosalba Carrozzo, Gabriele Cruciani, Enrico Bertini, Francesco Nicita, Fiorella Piemonte, Marco Cappa   +10 more
doaj   +1 more source

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

Genetics and Molecular Biology, 2000
Adrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency.
Carmen R. Vargas, Daniella de M. Coelho, Alethéa G. Barschak, Carolina F.M. de Souza, Ana C.S. Puga, Ida V.D. Schwartz, Laura Jardim, Roberto Giugliani   +7 more
doaj   +1 more source

The experiences of parents of children diagnosed with cerebral adrenoleukodystrophy

Child: Care, Health and Development, Volume 50, Issue 1, January 2024.
Abstract Background Adrenoleukodystrophy (ALD) is a rare X‐linked neurodegenerative disease, affecting the brain, spinal cord and adrenal cortex. Childhood cerebral ALD (CCALD) is the most severe form of disease, involving rapidly progressive neurological deterioration.
Hilary Piercy, Charlotte Nutting
wiley   +1 more source

Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy

, 2005
Background/Aims : Adrenomedullin (AM) is a recently purified hypotensive peptide and its encoding gene has been sequenced from a human pheochromocytoma. High levels of AM have been shown in Addison's disease (AD).
D'ERASMO, Emilio, M. Cappa, S. Benedetti, G. Ubertini, A. Di Biase, LETIZIA, Claudio, S. Subioli, C. Bizzarri   +7 more
core   +1 more source

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy

, 2017
Objective: Mutations in ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord axonopathy adrenomyeloneuropathy (AMN) in nearly all males surviving into adulthood.
Eichler, Florian, Nikhil Sasidharan, Joseph El Khoury, El Khoury, Joseph, Sasidharan, Nikhil, Patricia Musolino, Alessandra Biffi, Kim, Doo Yeon, Yi Gong, Laheji, Fiza, Fiza Laheji, Frosch, Matthew, Doo Yeon Kim, Rudy Tanzi, Florian Eichler, Biffi, Alessandra, Gong, Yi, Musolino, Patricia, Matthew Frosch, Tanzi, Rudy   +19 more
core   +1 more source