Results 41 to 50 of about 1,386 (146)

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1236-1248, June 2026.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. [PDF]

PLoS ONE, 2012
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD).
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou, Ingrid Pribill, Sonja Forss-Petter, Michel Vidaud, Johannes Berger, Patrick Aubourg   +9 more
doaj   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1206-1221, June 2026.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

Radiology Case Reports, 2019
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their ...
Clemente Dato, MD, Guglielmo Capaldo, MD, Chiara Terracciano, MD, PhD, Filomena Napolitano, MSc, PhD, Alessandra D'Amico, MD, Sabina Pappatà, MD, Filippo Maria Santorelli, MD, PhD, Giuseppe Di Iorio, MD, Simone Sampaolo, MD, PhD, Mariarosa AB Melone, MD   +9 more
doaj   +1 more source

Role of MRI in X-linked adrenoleukodystrophy—A case report

Radiology Case Reports, 2022
X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes, hence impeding VLCFA breakdown leading to its ...
Sajiva Aryal, MBBS, Suraj Sharma, MBBS, MD, Saroj Poudel, MBBS, Sunita Sharma, MPH   +3 more
doaj   +1 more source

A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy

, 2018
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep.
Barsacchi, Marina, Anna Andreolli, Ormitti, Francesca, Pisani, Francesco, Carlotta Facini, Francesco Pisani, Emanuela C. Turco, Francesca Ormitti, Facini, Carlotta, Andreolli, Anna, Turco, Emanuela C., Marina Barsacchi   +11 more
core   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1276-1282, June 2026.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

Annals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +1 more source

X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects

, 2016
In this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy.
Horn, Morten Andreas
core   +1 more source

Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy [PDF]

Revista Brasileira de Oftalmologia, 2019
X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold.
Maria Angélica Tosi Ferreira, João Francisco de Oliveira Gonzales, Elisa Pacheco Estima Correia, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa   +5 more
doaj   +1 more source