Results 21 to 30 of about 1,447 (169)
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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Paraplegia due to adrenomyeloneuropathy [PDF]
Spinal Cord, 1984 Only nine cases of adrenomyeloneuropathy have been reported in the literature. It manifested as adrenal insufficiency, spastic paraparesis, loss of bowel, bladder and sexual functions, and peripheral neuropathy. Our paper describes a patient with the diagnosis of adrenomyeloneuropathy who was admitted to our hospital for rehabilitation.
S, Lamid, A Z, El Ghatit
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Auditory function in adrenomyeloneuropathy [PDF]
Journal of the Neurological Sciences, 2008 Auditory brainstem responses (ABR), ipsilateral and contralateral acoustic reflexes and the masking level difference for speech (MLD) were studied in 29 patients with adrenomyeloneuropathy (AMN). Abnormalities were seen for all ABR components with Waves V and III affected to the greatest degree.
Joseph P, Pillion +2 more
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Frontiers in Neurology, 2018 X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients.
Yanxing Chen +3 more
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Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Objective To report 5 patients with adrenomyeloneuropathy (AMN), and to summarize the clinical phenotype and gene mutation characteristics in combination with literature and mutation database.
LIU Xiao⁃li +3 more
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Rare variability in adrenoleukodystrophy: a case report
Journal of Medical Case Reports, 2018 Background X-linked adrenoleukodystrophy is a genetic disorder with diverse clinical phenotypes. Of these phenotypes, the cerebral form usually manifests during early childhood with rapid cognitive and neurological deterioration and is accompanied by ...
Yanming Chen +2 more
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Gene Therapy of Adrenomyeloneuropathy: Challenges, Target Cells, and Prospectives
BiomedicinesGene replacement using adeno-associated viral (AAV) vectors has become a major therapeutic avenue for neurodegenerative diseases (NDD). In single-gene diseases with loss-of-function mutations, the objective of gene therapy is to express therapeutic ...
Pierre Bougnères +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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Genes and Diseases, 2021 Adrenomyeloneuropathy (AMN) is a kind of varied disease caused by ABCD1 gene mutation and characterized by very-long-chain fatty acids (VLCFA) accumulation. It is diagnosed by clinical features, high VLCFAs levels and ABCD1 gene mutation.
Yu Zhang +6 more
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Uncommon Cause of Acute Adrenal Failure - Case Report
Endocrinology Research and Practice, 2010 Adrenomyeloneuropathy is a rare X-linked inherited disorder of peroxisomes characterized by accumulation of very-long-chain fatty acids (VLCFA) in the central and peripheral nervous system, adrenal glands and testes, leading to dysfunction of these ...
Faiza Qari, Tariq Nasser
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