Results 1 to 10 of about 13,490 (167)
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism [PDF]
Annals of Clinical and Translational NeurologyIn this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron
Christina L. Nemeth +8 more
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Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy [PDF]
Annals of Clinical and Translational NeurologyAdrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with ...
Chenwei Yan +3 more
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Pediatric Neurology Briefs, 1989 The biochemical and clinical efficacy of dietary erucic acid (C22:1) therapy for X-l inked adrenoleukodystrophy (ALD) was investigated at the Departments of Pediatrics, Human Genetics, Neurology, Medical College of Virginia, Virginia Commonwealth ...
J Gordon Millichap
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Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016 Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and
Nišić Tatjana +9 more
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Gait Difficulties and Postural Instability in Adrenoleukodystrophy
Frontiers in Neurology, 2021 Background: Gait and balance difficulties are among the most common clinical manifestations in adults with X-linked adrenoleukodystrophy, but little is known about the contributions of sensory loss, motor dysfunction, and postural control to gait ...
Neha P. Godbole +13 more
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Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1982 SUMMARY:Adrenoleukodystrophy (ALD) is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency. Several phenotypes are described. In post-mortem tissues there is an accumulation of saturated or mono-unsaturated very long chain fattyacids (VLCFA) in the cholesterol ester fraction of adrenal cortex and ...
B P, O'Neill, H W, Moser
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A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction [PDF]
Journal of Movement Disorders, 2009 X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy.
Seunguk Jung +4 more
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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 +7 more
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Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
International Journal of Neonatal Screening, 2022 Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals.
Ann B. Moser +2 more
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International Journal of Neonatal Screening, 2023 Adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, encoding for the adrenoleukodystrophy protein (ALDP), leading to defective peroxisomal β-oxidation of very long-chain and branched-chain fatty acids (VLCFA).
Julia Prinzi +6 more
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