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Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy. [PDF]
Ann Clin Transl NeurolAdrenoleukodystrophy 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 ...
Yan C, Pierpont EI, Fine AS, Kartha RV.
europepmc +2 more sources
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism. [PDF]
Ann Clin Transl NeurolIn 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
Nemeth CL +8 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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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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Management of X-linked adrenoleukodystrophy in Morocco: actual situation
BMC Research Notes, 2017 Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of
F. Z. Madani Benjelloun +4 more
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A clinical case of X-linked adrenoleukodystrophy in a 9-year-old boy
Бюллетень сибирской медицины, 2022 X-linked adrenoleukodystrophy belongs to peroxisomal disorders characterized by combined damage to the nervous system and adrenal glands and often leading to death.
Ya. V. Girsh, K. A. Yakimova
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Journal of Medical Case Reports, 2009 Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic
Cakan Nedim +2 more
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