Results 61 to 70 of about 7,234,150 (180)

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

X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism [PDF]

, 2005
The neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is caused by ABCD1 mutations and characterized by very long-chain fatty acid (VLCFA) accumulation. Cholesterol-lowering normalized VLCFA in fibroblasts and plasma of X-ALD patients.
Žigman, Mihaela, Sonja Forss-Petter, Weinhofer, Isabelle, Isabelle Weinhofer, Markus Kunze, Forss-Petter, Sonja, Kunze, Markus, Berger, Johannes, Mihaela Žigman, Johannes Berger   +9 more
core   +1 more source

X-linked Adrenoleukodystrophy

, 2013
International audienceX-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical
Trompier, Doriane, Savary, Stéphane
core   +1 more source

Peroxisomal ABC transporters and X-linked adrenoleukodystrophy

, 2012
X-linked adrenoleukodystrophy (X-ALD) is a complex neurodegenerative disease associated with mutations in the ABCD1 gene, which encodes for a peroxisomal ABC transporter.
Gondcaille, Catherine, Flore Geillon, Trompier, Doriane, Savary, Stéphane, Stéphane Savary, Doriane Trompier, Gérard Lizard, Catherine Gondcaille, Lizard, Gérard, Geillon, Flore   +9 more
core   +1 more source

In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients

Clinical and Biomedical Research, 2017
Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (NAC)
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas   +5 more
doaj   +2 more sources

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

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy

, 2006
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup ...
Kemp, S., Klockgether, T., Wullner, U., Kemp, S (Stephan), Kohler, W, Gartner, J, Linnebank, M, Schmidt, S, Schmidt, S., Fliessbach, K., Kleijer, WJ (Wim), Klockgether, T, Sokolowski, P, Gärtner, Jutta, van der Sterre, M. L. T., Kohler, W., Semmler, A, Wanders, Ronald J. A., Wanders, RJA, Linnebank, M., Sterre, Marianne, Fliessbach, K, Wullner, U, Semmler, A., Schlegel, U, Kleijer, W. J., Sokolowski, P., Schlegel, U.   +27 more
core   +1 more source

Current and Future Pharmacological Treatment Strategies in X-linked Adrenoleukodystrophy [PDF]

, 2018
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN). Currently, the most efficient therapeutic opportunity for patients with the cerebral form of X-ALD is ...
Pujol Onofre, Aurora, Aubourg, Patrick, Forss-Petter, Sonja, Berger, Johannes   +3 more
core   +1 more source

Inpatient Deaths in Pediatric Leukodystrophies

Annals of the Child Neurology Society, Volume 4, Issue 3, Page 207-218, September 2026.
ABSTRACT Background and Objectives Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.
Hannah S. Hart, Kalista L. Vordos, Caroline T. Flood, Darin J. Isakson, Alfredo Novoa, Joshua L. Bonkowsky   +5 more
wiley   +1 more source

‐linked adrenoleukodystrophy among adult men with Addison's disease

, 2013
ObjectivesX-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men.
Morten A. Horn, Anette S. B. Wolff, Wolff, A. S. B., Skjeldal, Ola H., Ola H. Skjeldal, Husebye, E. S., Jan‐Eric Månsson, Erichsen, M. M., Månsson, Jan-Eric,, Eystein S. Husebye, Horn, M. A., Chantal M. E. Tallaksen, Martina M. Erichsen, Tallaksen, C. M. E.   +13 more
core   +1 more source