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ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy [PDF]

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   +8 more sources

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population [PDF]

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   +6 more sources

A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family [PDF]

Brain and Behavior, 2019
Background Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. Methods Clinical manifestations were collected and observed through medical records, physical examination, laboratory tests,
Chao Wang, Hongchao Liu, Bing Han, Hui Zhu, Jingyao Liu   +4 more
doaj   +6 more sources

A Novel Missense Variant of the ABCD1 Gene in X‐Linked Adrenoleukodystrophy in Chinese Family [PDF]

Molecular Genetics & Genomic Medicine
Background We identified a novel ABCD1 variant (c.773T>G, p.Leu258Arg, NM_000033.4) in a Chinese pedigree affected by X‐linked adrenoleukodystrophy (X‐ALD).
Hongxia Fu, Lu Han, Xianhong Liu, Bin He, Pei He, Junjian Hu   +5 more
doaj   +6 more sources

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

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   +3 more sources

ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2021
Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired ...
Angelika Mohn, Nella Polidori, Chiara Aiello, Cristiano Rizzo, Cosimo Giannini, Francesco Chiarelli, Marco Cappa   +6 more
doaj   +5 more sources

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification [PDF]

Frontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi, Xiaoxue Shi, Xiaoxue Shi, Xuelin Qi, Xuelin Qi, Jinhua Zheng, Jinhua Zheng, Jinhua Zheng, Jianjun Ma, Jianjun Ma, Jianjun Ma, Dongsheng Li, Dongsheng Li, Dongsheng Li   +13 more
doaj   +4 more sources

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review [PDF]

Clinical Case Reports
X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation ...
Fu‐Qing Zhang, Zhuoran Zhang, Dongliang Wang, Ying Yang, Xin Li   +4 more
doaj   +3 more sources

Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]

Endocrinology and Metabolism, 2020
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim   +2 more
doaj   +2 more sources

Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype [PDF]

Communications Biology
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurodegenerative disorder caused by a loss-of-function (LOF) mutation in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, leading to the accumulation of very long-chain fatty acids ...
Joshua Manor, Sharayu V. Jangam, Hyung-lok Chung, Pranjali Bhagwat, Jonathan C. Andrews, Hillary Chester, Shu Kondo, Saurabh Srivastav, Juan Botas, Ann B. Moser, Suzette M. Huguenin, Michael F. Wangler   +11 more
doaj   +2 more sources