Results 31 to 40 of about 4,338 (139)

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

Frontiers in Neurology, 2023
BackgroundAs a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN.MethodsWe applied clinical evaluation, laboratory ...
Raoli He, Raoli He, Jian Zhang, Jian Zhang, Tianwen Huang, Tianwen Huang, Guoen Cai, Guoen Cai, Zhangyu Zou, Zhangyu Zou, Qinyong Ye, Qinyong Ye, Qinyong Ye   +12 more
doaj   +1 more source

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges

International Journal of Neonatal Screening, 2022
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in ABCD1 resulting in defective peroxisomal oxidation of very long-chain fatty acids.
Craig V. Baker, Alyssa Cady Keller, Richard Lutz, Karen Eveans, Krystal Baumert, James C. DiPerna, William B. Rizzo   +6 more
doaj   +1 more source

Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy [PDF]

, 2014
PURPOSE: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients. MATERIALS AND METHODS: We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of ...
최영철, 이필휴, 김승민, 서범천, 최병옥, 박형준, 강훈철, 신하영   +7 more
core   +2 more sources

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy. [PDF]

Neurol Genet
Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female adults reaching
Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL.   +10 more
europepmc   +2 more sources

X-linked adrenoleukodystrophy and primary adrenal insufficiency

Frontiers in Endocrinology, 2023
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP ...
Marco Cappa, Tommaso Todisco, Carla Bizzarri   +2 more
doaj   +1 more source

Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Objective To report 5 patients with adrenomyeloneuropathy (AMN), and to summarize the clinical phenotype and gene mutation characteristics in combination with literature and mutation database.
LIU Xiao⁃li , ZHANG Bin , ZHAN Fei⁃xia , CAO Li   +3 more
doaj   +1 more source

Bezafibrate for X-linked adrenoleukodystrophy. [PDF]

PLoS ONE, 2012
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and is characterized by impaired beta-oxidation of very-long-chain fatty acids (VLCFA) and subsequent VLCFA accumulation in tissues. In adulthood X-ALD most commonly manifests
Marc Engelen, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B Moser, Inge M E Dijkstra, Ronald J A Wanders, Bwee Tien Poll-The, Stephan Kemp   +8 more
doaj   +1 more source

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy

, 2019
Adrenomyeloneuropathy (AMN) is the most frequent metabolic hereditary spastic paraplegia. Accordingly, its main site of pathological changes is the spinal cord.
Castellano, Antonella, Papinutto, Nico, E. Salsano, A. Castellano, Salsano, Ettore, Mauro, Elena, Pareyson, Davide, E. Mauro, Falini, Andrea, Henry, Roland G, R. G. Henry, N. Papinutto, D. Pareyson, L. S. Politi, A. Falini, Politi, Letterio S   +15 more
core   +1 more source

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia

Cells, 2022
Mutations in the peroxisomal half-transporter ABCD1 cause X-linked adrenoleukodystrophy, resulting in elevated very long-chain fatty acids (VLCFA), progressive neurodegeneration and an associated pain syndrome that is poorly understood.
Yi Gong, Fiza Laheji, Anna Berenson, April Qian, Sang-O Park, Rene Kok, Martin Selig, Ryan Hahn, Reza Sadjadi, Stephan Kemp, Florian Eichler   +10 more
doaj   +1 more source

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

International Journal of Endocrinology, 2022
Background. X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene.
Bingzi Dong, Wenshan Lv, Lili Xu, Yuhang Zhao, Xiaofang Sun, Zhongchao Wang, Bingfei Cheng, Zhengju Fu, Yangang Wang   +8 more
doaj   +1 more source