ABCD1
- Known as:
- ABCD1
- Catalog number:
- 000921A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCD1
Related genes to: ABCD1
- Gene:
- ABCD1 NIH gene
- Name:
- ATP binding cassette subfamily D member 1
- Previous symbol:
- ALD
- Synonyms:
- AMN, ALDP, adrenoleukodystrophy
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ABCD1
Related articles to: ABCD1
- The current clinical nomenclature for individuals with 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). However, this term is inaccurate for individuals who never develop these features. dysfunction can cause various symptom complexes: adrenal insufficiency, myelopathy, neuropathy, and leukodystrophy, which may occur consecutively, simultaneously, or not at all. - Source: PubMed
Publication date: 2026/08/04
Kabak Eda GVidebaek CecilieVoermans Marije M Cvan Geel Björn Mvan Haren KeithKemp Stephanvan de Beek DiederikEngelen Marc - We report the case of a 47-year-old Colombian woman with a persistent gait disorder beginning at 46 years of age. Neurological examination showed preserved strength, lower-limb spasticity, diffuse hyperreflexia, brisk jaw jerk, and a unilateral Hoffmann sign, without definite bulbar, respiratory, cognitive, sensory, or cerebellar involvement. Brain MRI showed nonspecific occipital/subcortical T2/FLAIR (fluid-attenuated inversion recovery) white matter hyperintensities, and spinal MRI showed mild degenerative changes without compressive myelopathy or spinal cord signal abnormality. Laboratory evaluation did not identify an inflammatory, infectious, nutritional, metabolic, or endocrine cause of myelopathy. Two electrodiagnostic studies showed preserved motor and sensory nerve conduction, normal late responses, normal motor unit action potentials on needle electromyography, and no evidence of active denervation. Neuromuscular ultrasound was also normal, without nerve enlargement, abnormal muscle echogenicity, atrophy, or fasciculations. Overall, there was no diffuse, progressive, multiregional lower motor neuron pattern, and Gold Coast criteria for amyotrophic lateral sclerosis were not fulfilled. A motor neuron disease gene panel identified a heterozygous pathogenic ABCD1 variant, c.1415_1416delAG, p.Gln472Argfs*83. Repeat expansion testing for C9ORF72, ATXN1, and ATXN2 was normal. Classical plasma very-long-chain and branched-chain fatty acid testing showed elevated C26:0 and increased C24:0/C22:0 and C26:0/C22:0 ratios, with normal phytanic and pristanic acids. The clinical, imaging, electrodiagnostic, biochemical, and molecular findings supported ABCD1-related disease with an adrenomyeloneuropathy-predominant phenotype as the most likely explanation for this upper motor neuron-predominant amyotrophic lateral sclerosis (ALS) mimic. This case highlights the importance of considering ABCD1-related disease in adult women with unexplained noncompressive upper motor neuron syndromes when electrodiagnostic studies do not support ALS. - Source: PubMed
Publication date: 2026/08/16
Correa-Arrieta CristianCastellar Leones Sandra MilenaBernal-Vergara MarianaSaiz-Briceño MarianaDiaz-Ruiz JorgeOrtiz-Corredor Fernando - Adrenoleukodystrophy (ALD) is an X-linked recessive disease caused by defects in the gene, leading to the accumulation of very long-chain fatty acids in the nervous system, adrenal glands, blood and other tissues. Male ALD patients may present with either the severe neurological phenotype of cerebral ALD, characterized by inflammatory demyelination in the white matter and rapid neurological deterioration, or milder forms, such as adrenomyeloneuropathy. We aimed to identify early brain changes in asymptomatic ALD patients prior to the clinical onset of cerebral ALD or adrenomyeloneuropathy by exploratory analysis of multimodal MRI data. Multimodal MRI data-including structural images, diffusion tensor imaging, magnetization transfer imaging and MR spectroscopy-were obtained from asymptomatic ALD patients during regular follow-up MRIs. Longitudinal MRI data were analysed from 12 asymptomatic ALD patients aged 10-18 years who did not develop a cerebral ALD phenotype during our surveillance and from 12 healthy age-matched male controls. Volumetric analyses of brain structures were performed using structural MRI data, as well as region-of-interest measurements on diffusion tensor imaging, magnetization transfer imaging and MR spectroscopy data. Statistical analysis was performed using linear mixed-effects models. Volumetry indicated increased white matter volume in asymptomatic ALD patients. Diffusion tensor imaging analysis revealed increased values of radial and mean diffusivity in the supratentorial white matter. Magnetization transfer saturation values derived from magnetization transfer imaging metrics were increased in the cortical and subcortical grey matter, but not in the white matter. MR spectroscopy showed increased inositol levels in the frontal white matter. Our diffusion tensor imaging and MR spectroscopy data indicate early white matter pathology in adolescent asymptomatic ALD patients. Among these findings, increased white matter volume and, in addition, elevated magnetization transfer saturation values in the grey matter are novel MRI phenotypes associated with asymptomatic ALD. These results suggest that not only white matter but also grey matter can be pathologically altered even before the onset of neurological phenotypes. Multimodal MRI parameters therefore constitute promising biomarkers for the assessment of pre-symptomatic brain tissue alterations in ALD and may be useful in future clinical studies targeting early therapeutic intervention. - Source: PubMed
Publication date: 2026/08/29
Meier KoljaSahoo PrativaMarten Lara MaleenGkalimani IriniHelms GuntherDechent PeterRosewich HendrikDreha-Kulaczewski SteffiGärtner Jutta - X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder and is associated with serious clinical consequences. While newborn screening (NBS) could facilitate early identification and timely intervention, its implementation for X-ALD remains controversial due to ethical concerns arising from its X-linked recessive inheritance pattern, particularly regarding female newborns. This study aims to explore the perspectives of healthcare professionals and the general public on NBS for X-ALD in Hong Kong. An online survey with 20 quantitative questions on ethical considerations was conducted from May to August 2024. Among a total of 259 responses, most respondents (99.2%) supported NBS for their male newborns, primarily because it facilitates early diagnosis and effective management. The majority of the respondents were in favor of offering NBS to female newborns, citing potential benefits for the management of adult-onset disease, enhanced family planning and support, and opportunities for extended family screening. However, some respondents expressed concerns regarding (1) psychological stress and anxiety from uncertain disease onset and frequent monitoring; (2) potential genetic discrimination and adverse impact on insurance premiums/coverage; (3) affordability and accessibility of expensive treatments, such as gene therapy; and (4) ethical issues regarding children's "right to an open future", particularly for late-onset female X-ALD. To address these concerns while respecting family autonomy, we propose an opt-in system with clear, balanced information for parents, combined with a three-tier screening algorithm. In summary, while inclusion of X-ALD in Hong Kong's NBS program receives strong community support, targeted measures are needed to mitigate the identified ethical and practical barriers. - Source: PubMed
Publication date: 2026/07/31
Mak Chloe MiuWu Hoi YingWong Ariel YingSong Felicite EnyuChan Toby Chun HeiFung Cheuk WingWong Suet NaHau Edgar Wai LokYeung Matthew Chun Wing - X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to impaired peroxisomal β-oxidation of very-long-chain fatty acids (VLCFAs). Adrenomyeloneuropathy (AMN) is a frequent adult phenotype characterized by progressive spastic paraparesis and axonal neuropathy. We report the first case of AMN associated with a novel ABCD1 variant. - Source: PubMed
Publication date: 2026/08/15
Barone ValentinaBorghi AnnamariaVaisfeld AlessandroCorona GiovanniGalatolo DanieleTessa AlessandraSantorelli FilippoStagni SilviaSimonetti LuigiZini Andrea