Results 41 to 50 of about 4,338 (139)

Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy

, 2014
To study the frequency of additional cerebral demyelination in Dutch patients with adrenomyeloneuropathy (AMN). Consecutive patients with AMN from the Dutch X-linked adrenoleukodystrophy cohort without cerebral demyelination on MRI at inclusion, seen ...
van Geel, Björn M., Engelen, Marc, de Beer, Marlijn   +2 more
core   +1 more source

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Case Reports in Genetics, 2020
Background. The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation.
John E. Richter Jr., Charitha Vadlamudi, Sarah K. Macklin, Ayesha Samreen, Haytham Helmi, Daniel Broderick, Ahmed N. Mohammad, Stephanie L. Hines, Jay A. VanGerpen, Paldeep S. Atwal, Thomas R. Caulfield   +10 more
doaj   +1 more source

Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy.

, 2007
BACKGROUND: Cerebral involvement is usually absent in pure adrenomyeloneuropathy (AMN). Recently, nonconventional MR studies have reported brain abnormalities in patients with pure AMN, providing evidence that occult cerebral involvement may occur in ...
DE LUCA M, MONDELLI M, FEDERICO, ANTONIO, GALLUZZI P, FORMICHI P, MARINO S, BRAMANTI P, DE STEFANO, NICOLA, DOTTI, MARIA, STROMILLO, MARIA LAURA   +9 more
core   +1 more source

An Automated Analysis Tool for Diffusion Tensor Imaging‐Based Quantitative MRI in X‐Linked Adrenoleukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is caused by ABCD1 pathogenic variants, leading to accumulation of very long‐chain fatty acids (VLCFAs). Phenotypes include cerebral ALD (CALD) and adrenomyeloneuropathy (AMN). We assessed if quantitative MRI (qMRI) parameters from an automated tool (BrainQuant) could differentiate CALD from non‐CALD and ...
Eda G. Kabak, Fenna van Dodewaard, Stefan D. Roosendaal, Hemmo A. F. Yska, Marije M. C. Voermans, Marine Bourgeais, Vincent Perlbarg, Marc Engelen   +7 more
wiley   +1 more source

A Novel Missense Variant of the ABCD1 Gene in X‐Linked Adrenoleukodystrophy in Chinese Family

Molecular Genetics &Genomic Medicine, Volume 13, Issue 10, October 2025.
This study identifies a novel ABCD1 gene variant (c.773T>G, p.Leu258Arg) linked to X‐linked adrenoleukodystrophy in a Chinese family, demonstrating its pathogenic impact via disrupted peroxisomal localization and impaired fatty acid metabolism, thus expanding the mutation spectrum and advancing molecular diagnosis and familial genetic counseling ...
Hongxia Fu, Lu Han, Xianhong Liu, Bin He, Pei He, Junjian Hu   +5 more
wiley   +1 more source

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

, 2012
BackgroundX-linked adrenoleukodystrophy (X-ALD) is the most frequent, severely neurodegenerative, clinically heterogeneous peroxisomal disorder, the signs of which are a consequence of myelin, adrenal cortex, and testes impairment.ObjectiveWe studied ...
R Janas, J Kubalska, T J Stradomska, A Tylki-Szymańska   +3 more
core   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society, Volume 3, Issue 3, Page 176-187, September 2025.
ABSTRACT Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications, such as scoliosis and failure of independent feeding.
Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver   +31 more
wiley   +1 more source

Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family

, 1990
We present a large kindred that contained patients with either adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN). The pedigree clearly supported the X-linked mode of inheritance of the nonneonatal form of ALD/AMN.
Willems, P. J., J. G. Leroy, Vits, L., Coucke, P. J., P. Raeymaekers, Raeymaekers, P., van der Auwera, B. J., van Elsen, A. F., Schutgens, R. B., P. J. Willems, R. J. A. Wanders, A. F. Van Elsen, C. Van Broeckhoven, L. Vits, B. J. Van der Auwera, G. Dacremont, P. J. Coucke, R. B. H. Schutgens, J. E. Dumon, Wanders, R. J., van Broeckhoven, C., Dacremont, G., J.-J. Martin   +22 more
core   +1 more source

Nervonic acid, a long chain monounsaturated fatty acid, improves mitochondrial function in adrenomyeloneuropathy fibroblasts

British Journal of Pharmacology, Volume 182, Issue 17, Page 4134-4146, September 2025.
Abstract Background and Purpose Nervonic acid plays a vital role in maintaining normal brain and neuronal function. Nervonic acid has gained increasing attention because of its potential neuroprotective and anti‐inflammatory properties. Nonetheless, the beneficial effects of nervonic acid are yet to be fully investigated. Adrenomyeloneuropathy (AMN), a
Chenxu Li, Marcia R. Terluk, Reena V. Kartha   +2 more
wiley   +1 more source

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g., tyrosinemia type I), there are clear and substantial health benefits of NBS, while for others (e.g., very long chain acyl CoA dehydrogenase deficiency and 3 ...
Mirjam Langeveld, Sandra Sirrs, Daphne H. Schoenmakers, Timothy Fazio, Melanie M. van der Klauw, Francois Maillot, Reena Sharma, Christel Tran, Athanasia Ziagaki, Fanny Mochel   +9 more
wiley   +1 more source