Results 11 to 20 of about 14,971 (151)
X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations
SAGE Open Medical Case Reports, 2017 Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric ...
Daniah Shamim, Karen Alleyne
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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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Lorenzo Oil Therapy for Adrenoleukodystrophy
Pediatric Neurology Briefs, 1993 Dietary therapy with glycerol trioleate and glycerol trierucate (Lorenzo oil) was tested in 108 adult patients with adrenomyeloneuropathy phenotype of adrenoleukodystrophy (ALD) at Johns Hopkins Hospital and the Kennedy Krieger Institute, Baltimore, MD.
J Gordon Millichap
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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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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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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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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 +2 more
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Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation
Frontiers in Molecular Neuroscience, 2023 Microglia are crucial for brain homeostasis, and dysfunction of these cells is a key driver in most neurodegenerative diseases, including peroxisomal leukodystrophies.
Ali Tawbeh +20 more
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