Results 11 to 20 of about 4,338 (139)

Intrathecal administration of mesenchymal stem cells in patients with adrenomyeloneuropathy [PDF]

Frontiers in Neurology
Background and objectivesX-linked adrenomyeloneuropathy (AMN) is an inherited neurodegenerative disorder associated with mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids (VLFCAs) in plasma and tissues.
Tomasz Siwek, Tomasz Siwek, Beata Zwiernik, Beata Zwiernik, Katarzyna Jezierska-Woźniak, Kamila Jezierska, Marcin P. Mycko, Marcin P. Mycko, Krzysztof W. Selmaj, Krzysztof W. Selmaj   +9 more
doaj   +4 more sources

Adrenoleukodystrophy/Adrenomyeloneuropathy and Neurogenic Bladder Dysfunction. A Review

Juvenis Scientia, 2023
One of the conditions associated with adrenoleukodystrophy (ALD) / adrenomyeloneuropathy (AMN) is neurogenic lower urinary tract dysfunction (LUTD). A thorough examination of patients with ALD/AMN in most cases can reveal overactive bladder (OAB), which ...
Khudyakova, N.V., Pchelin, I.Yu., Shishkin, A.N., Soloviev, O.V., Smirnov, V.V.   +4 more
doaj   +2 more sources

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Genes and Diseases, 2021
Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation.
Yu Zhang, Guoyong Zhang, Wenhui Chen, Zheng Pu, Lu Song, Xinghua Tang, Zhenguo Liu   +6 more
doaj   +2 more sources

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity [PDF]

JIMD Reports, 2022
Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, Jordan Goodman, Ann B. Moser, Richard Owen Jones, Ali Fatemi, Jaspreet Singh   +7 more
doaj   +3 more sources

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy [PDF]

BMC Neurology, 2012
Background Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS
Jønch Aia, Danielsen Else, Thomsen Carsten, Meden Per, Svenstrup Kirsten, Nielsen Jørgen   +5 more
doaj   +4 more sources

Adrenomyeloneuropathy with bulbar palsy: A rare association

Annals of Indian Academy of Neurology, 2014
Adrenomyeloneuropathy (AMN) is a variant of adrenoleukodystrophy (ALD), an X-linked recessive peroxisomal disorder associated with accumulation of very long chain fatty acids (VLCFA). Mutations of this gene lead to abnormal peroxisomal β-oxidation, which
Vishal Annaji Chafale, Satish Arunkumar Lahoti, Atanu Biswas, Arijit Roy, Asit Kumar Senapati   +4 more
doaj   +2 more sources

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Orphanet Journal of Rare Diseases, 2018
Objective High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS.
Tim W. Rattay, Jennifer Just, Benjamin Röben, Holger Hengel, Rebecca Schüle, Matthis Synofzik, Anne S. Söhn, Natalie Winter, Nele Dammeier, Ludger Schöls, Alexander Grimm   +10 more
doaj   +2 more sources

A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia

Frontiers in Neurology, 2018
X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients.
Yanxing Chen, Jianfang Zhang, Jianwen Wang, Kang Wang   +3 more
doaj   +2 more sources

ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy

The Application of Clinical Genetics, 2022
Alyssa M Volmrich,1 Lauren M Cuénant,1 Irman Forghani,2 Sharon L Hsieh,3 Lauren T Shapiro1 1Department of Physical Medicine & Rehabilitation, University of Miami Miller School of Medicine, Miami, FL, USA; 2Department of Human Genetics, University of ...
Volmrich AM, Cuénant LM, Forghani I, Hsieh SL, Shapiro LT   +4 more
doaj   +2 more sources

Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid-A case report [PDF]

Lipids in Health and Disease, 2011
This is a case report of adrenomyeloneuropathy (AMN), the adult variant of adrenoleukodystryphy (ALD). The diagnoses in the patient, aged 34, was confirmed via increased serum very long chain fatty acid concentration (VLCFA).
Bergh Jacobus J, van der Walt Mietha M, Terre'Blanche Gisella, Mienie Lodewyk J   +3 more
doaj   +2 more sources