Males with adrenoleukodystrophy develop progressive myelopathy causing severe disability later in life. No treatment is currently available, but new disease-modifying therapies are under development. Knowledge of the natural history of the myelopathy is of paramount importance for evaluation of these therapies in clinical trials, but prospective data on disease progression are lacking. We performed a prospective observational cohort study to quantify disease progression over 2 years of follow-up. Signs and symptoms, functional outcome measures and patient-reported outcomes were assessed at baseline, 1 and 2 years of follow-up. We included 46 male adrenoleukodystrophy patients (median age 45.5 years, range 16-71). Frequency of myelopathy at baseline increased with age from 30.8% (<30 years) to 94.7% (>50 years). Disease progression was measured in the patients who were symptomatic at baseline (n = 24) or became symptomatic during follow-up (n = 1). Significant progression was detected with the functional outcome measures and quantitative vibration measurements. Over 2 years of follow-up, Expanded Disability Status Score increased by 0.34 points (P = 0.034), Severity Scoring system for Progressive Myelopathy decreased by 2.78 poi...Continue Reading
Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation
Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes
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Translation, validation, and norming of the Dutch language version of the SF-36 Health Survey in community and chronic disease populations
Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Assessing walking ability in subjects with spinal cord injury: validity and reliability of 3 walking tests
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
The Academic Medical Center Linear Disability Score (ALDS) item bank: item response theory analysis in a mixed patient population
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
Modified Ashworth scale reliability for measurement of lower extremity spasticity among patients with SCI
Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report
Strength: a relevant link to functional performance in the neurodegenerative disease of adrenomyeloneuropathy
Severity score system for progressive myelopathy: development and validation of a new clinical scale.
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Calculating and reporting effect sizes to facilitate cumulative science: a practical primer for t-tests and ANOVAs
Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - a cross-sectional study - including reference values of Timed Up & Go, 10m walk and step test
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes
The modified Japanese Orthopaedic Association scale: establishing criteria for mild, moderate and severe impairment in patients with degenerative cervical myelopathy
Neurostatus e-Scoring improves consistency of Expanded Disability Status Scale assessments: A proof of concept study
X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies
X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
Bone marrow transplantation into Abcd1-deficient mice: Distribution of donor derived-cells and biological characterization of the brain of the recipient mice.
Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy.
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.
The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.
Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.