Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2499
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare. read more here.
Keywords: dominant form; case; adrenoleukodystrophy; brainstem dominant ... See more keywords
Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09627-z
Abstract: Background Progressive myelopathy is the main cause of disability in adrenoleukodystrophy (ALD). Development of therapies is hampered by a lack of quantitative outcome measures. In this study, we investigated whether myelopathy in ALD is associated… read more here.
Keywords: coherence tomography; optical coherence; ald; adrenoleukodystrophy ... See more keywords
Five men with arresting and relapsing cerebral adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurology"
DOI: 10.1007/s00415-020-10225-7
Abstract: X-linked adrenoleukodystrophy (ALD) is the most common genetic peroxisomal disorder with an estimated prevalence of 1:15,000. Approximately two-thirds of males with ALD manifest the inflammatory demyelinating cerebral phenotype (cALD) at some disease stage, in which… read more here.
Keywords: arresting relapsing; five men; men arresting; adrenoleukodystrophy ... See more keywords
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
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DOI: 10.1038/s41439-025-00309-z
Abstract: Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from childhood-onset cerebral forms to adult-onset adrenomyeloneuropathy (AMN). We report a rare in-frame ABCD1 deletion c.1469_71delTGG (p.Val490del) in… read more here.
Keywords: frame deletion; variant; deletion variant; adrenoleukodystrophy ... See more keywords
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
Sign Up to like & getrecommendations! Published in 2022 at "Expert Opinion on Biological Therapy"
DOI: 10.1080/14712598.2022.2124857
Abstract: ABSTRACT Introduction Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an incidence of 1 in 14–17,000 male births, caused by pathogenic variants within the ABCD1 gene. By adulthood, approximately 40% of the patients develop cerebral… read more here.
Keywords: therapy; cerebral ald; gene therapy; transplantation ... See more keywords
Novel ABCD1 Variants in X‐Linked Adrenoleukodystrophy
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DOI: 10.1111/cge.14752
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. We reported the clinical features and genetic findings of 17 X‐ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC… read more here.
Keywords: variants linked; adrenoleukodystrophy; ald; abcd1 variants ... See more keywords
Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.
Sign Up to like & getrecommendations! Published in 2021 at "Neuropathology and applied neurobiology"
DOI: 10.1111/nan.12747
Abstract: AIMS Mitochondrial dysfunction and inflammation are at the core of axonal degeneration in several multifactorial neurodegenerative diseases, including multiple sclerosis, Alzheimer's and Parkinson's disease. The transcriptional coregulator RIP140/NRIP1 (receptor-interacting protein 140) modulates these functions in… read more here.
Keywords: modulation mitochondrial; adrenoleukodystrophy; model; rip140 ... See more keywords
Adrenoleukodystrophy presenting as glue sniffing
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DOI: 10.1136/bcr-2019-233036
Abstract: Adrenoleukodystrophy classically presents in childhood with bronze skin, spastic tetraparesis, dysphagia, behavioural abnormalities and adrenal insufficiency. However, atypical presentations are known. Here we report an adolescent with adrenoleukodystrophy who first sought medical attention for glue… read more here.
Keywords: adrenoleukodystrophy; presenting glue; glue sniffing; adrenoleukodystrophy presenting ... See more keywords
Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.
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DOI: 10.1177/08830738251353034
Abstract: Objectives More than half of males with X-linked adrenoleukodystrophy (ALD) develop progressive, inflammatory cerebral demyelination (cerebral adrenoleukodystrophy). Treatment for cerebral adrenoleukodystrophy is limited with no standard therapies for advanced cerebral adrenoleukodystrophy. We reviewed cerebral adrenoleukodystrophy… read more here.
Keywords: immunopathology; inflammation immunomodulation; pathology; adrenoleukodystrophy ... See more keywords
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2018-11-887240
Abstract: Adrenoleukodystrophy (ALD) is caused by mutations within the X-linked ABCD1 gene, resulting in the inability to transport acylated very long chain fatty acids (VLCFAs) into the peroxisome for degradation. VLCFAs subsequently accumulate in tissues, including… read more here.
Keywords: blood brain; successful donor; adrenoleukodystrophy; blood ... See more keywords
Adult-Onset Adrenoleukodystrophy Presenting With Atypical Location of White Matter Lesions
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DOI: 10.1212/wnl.0000000000201437
Abstract: A 49 -year-old man presented with progressive limb stiffness, slowness, cognitive impairment, and urinary disturbance over 2 years. An examination revealed skin hyperpigmentation, apathy, attention deficit, spastic dysarthria, symmetric upper limb rigidity, lower limb spasticity,… read more here.
Keywords: adrenoleukodystrophy presenting; adult onset; adrenoleukodystrophy; onset adrenoleukodystrophy ... See more keywords