Results 51 to 60 of about 18,427 (209)

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

Annals of Clinical and Translational Neurology, EarlyView.
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

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

Journal of Neuroinflammation, 2011
Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA).
Orchard Paul J, Lund Troy, Miller Wes, Rothman Steven M, Raymond Gerald, Nascene David, Basso Lisa, Cloyd James, Tolar Jakub   +8 more
doaj   +1 more source

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2020
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD ...
Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp   +28 more
doaj   +1 more source

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

Annals of Clinical and Translational Neurology, EarlyView.
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

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies

JCRPE, 2021
Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA), primarily in the adrenal cortex and central nervous system.
Michael R Ryalls, Hoong-Wei Gan, James E Davison   +2 more
doaj   +1 more source

Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy

International Journal of Neonatal Screening, 2022
Adrenoleukodystrophy (ALD) is a peroxisomal disorder affecting the nervous system, adrenal cortical function, and testicular function. Newborn screening for ALD has the potential to identify patients at high risk for life-threatening adrenal crisis and ...
Isha Kachwala, Molly O. Regelmann
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, EarlyView.
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

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

X-linked adrenoleukodystrophy: a clinical case

Лечащий Врач
Background. Adrenoleukodystrophy (ALD) is an orphan hereditary disease associated with severe metabolic disorders. Taking into account the late appearance of symptoms of the disease with irreversible progression, it is relevant to introduce methods of ...
V. S. Ledneva, A. S. Ivannikova, M. V. Popova, O. I. Kiyatkina, A. A. Tikhonova, N. S. Korchagina   +5 more
doaj   +1 more source