Results 41 to 50 of about 2,524,227 (174)

A Novel Mutation of the ABCD1 Gene in Serbian X-Adrenoleukodystrophy [PDF]

Balkan Journal of Medical Genetics, 2008
A Novel Mutation of the ABCD1 Gene in Serbian X-AdrenoleukodystrophyX-linked adrenoleukodystrophy (XALD), the most common inherited peroxisomal disorder, is characterized by central nervous system demyelination, primary adrenal failure and the systemic accumulation of saturated very long chain fatty acids (VLCFAs).
Grkovic S, Nikolic R, Djordjevic M, Puzigaca Z, Vujic D, Ilic P   +5 more
openaire   +2 more sources

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

Longitudinal Clinical Progression in X‐Linked Adrenoleukodystrophy: The AMNL Scoring System [PDF]

Ann Child Neurol Soc
ABSTRACT Objective The current clinical nomenclature for individuals with ABCD1 gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X‐linked adrenoleukodystrophy” (ALD).
Kabak E, Videbaek C, Voermans M, van Geel B, van Haren K, Kemp S, van de Beek D, Engelen M.   +7 more
europepmc   +2 more sources

Contiguous Deletion of the X-Linked Adrenoleukodystrophy Gene (ABCD1) and DXS1357E: A Novel Neonatal Phenotype Similar to Peroxisomal Biogenesis Disorders [PDF]

, 2002
X-linked adrenoleukodystrophy (X-ALD) results from mutations in ABCD1. ABCD1 resides on Xq28 and encodes an integral peroxisomal membrane protein (ALD protein [ALDP]) that is of unknown function and that belongs to the ATP-binding cassette–transporter ...
Moser, Hugo W., Cutting, Garry R., Gibson, William, LePage, Guy, Smith, Kirby D., Tyson, Heidi, Raymond, Gerald V., Mitchell, Grant, Johnson, Kisha, Cox, Gerald F., Zeiss, Carolyn, Moser, Ann B., Steinberg, Steven J., Corzo, Deyanira, Casey, Robin, Watkins, Paul A.   +15 more
core   +1 more source

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

Molecular Genetics & Genomic Medicine, 2022
Background Variants in the ATP binding cassette protein subfamily D member 1 (ABCD1) gene are known to cause X‐linked adrenoleukodystrophy (X‐ALD). This study focused on the characteristics of ABCD1 variants in Chinese X‐ALD families and elucidated the ...
Siwen Liu, Lin Li, Hairong Wu, Pei Pei, Xuefei Zheng, Hong Pan, Xinhua Bao, Yu Qi, Yinan Ma   +8 more
doaj   +1 more source

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein [PDF]

, 2012
We diagnosed an adrenomyeloneuropathy (AMN) patient with a double novel missense mutation, c.284C>A (p.A95D) and c.290A>T (p.H97L) in a single ABCD1 allele. In skin fibroblasts from the patient, no ABCD1 protein was detected by immunoblot analysis, and the C24:0 β-oxidation activity was decreased to a level at which the ABCD1 protein was absent.
Masashi, Morita, Junpei, Kobayashi, Kozue, Yamazaki, Kosuke, Kawaguchi, Ayako, Honda, Kenji, Sugai, Nobuyuki, Shimozawa, Reiji, Koide, Tsuneo, Imanaka   +8 more
openaire   +2 more sources

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability

Frontiers in Neurology, 2022
ObjectivesThis study aimed to describe the clinical and radiological characteristics of a cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD).MethodsThree affected members from a family with cerebellar ataxia received full ...
Jae-Hwan Choi, Jae-Hwan Choi, Hyun Sung Kim, Eun Hye Oh, Jae Hyeok Lee, Jae Hyeok Lee, Chong Kun Cheon, Chong Kun Cheon   +7 more
doaj   +1 more source

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy

Nature Communications, 2023
Cerebral adrenoleukodystrophy (CALD) is a demyelinating disease caused by loss of ABCD1 gene function. Here the authors investigate white matter structural and microvascular changes in boys with CALD that received gene therapy with autologous ...
Arne Lauer, Samantha L. Speroni, Myoung Choi, Xiao Da, Christine Duncan, Siobhan McCarthy, Vijai Krishnan, Cole A. Lusk, David Rohde, Mikkel Bo Hansen, Jayashree Kalpathy-Cramer, Daniel J. Loes, Paul A. Caruso, David A. Williams, Kim Mouridsen, Kyrre E. Emblem, Florian S. Eichler, Patricia L. Musolino   +17 more
doaj   +1 more source

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of [PDF]

Korean Journal of Pediatrics, 2014
X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim   +4 more
doaj   +1 more source

A large family with p.Arg554his mutation in abcd1: Clinical features and genotype/phenotype correlation in female carriers [PDF]

, 2021
X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: Adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is caused by
Campopiano R., Fornai F., Gambardella S., D'Alessio C, D'Alessio C., Storto M., Giardina E., Centonze D., Centonze D, Chiaravalloti MA, Fornai F, Femiano C, Campopiano R, Ferese R, Biagioni F, Biagioni F., Zampatti S., Fanelli M., Femiano C., Buttari F., Buttari F, Ferese R., Fanelli M, Giardina E, Storto M, Amatori S., Amatori S, Zampatti S, Chiaravalloti M. A.   +28 more
core   +2 more sources