X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
Poorly formed aggregates and reduced levels of spores were apparent in the DZ2 aldA mutant, even after prolonged development.
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These data indicate that DMSP-ald is an intermediate in DMSP biosynthesis and that the other three compounds are not.
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Although different X-ALD phenotypes are recognized, little is known about their evolution.
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However, the mechanisms underlying the brain damage in X-ALD are poorly known.
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Watch the ALD descend into the belly of the Rosalind Franklin rover.
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The childhood-onset cerebral form of adrenoleukodystrophy has a devastating neurologic prognosis.
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A young male patient with adrenoleukodystrophy progressed from the frontal to the parieto-occipital region was reported.
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Background and purpose: Outcomes following hematopoietic stem cell transplantation for higher risk childhood-onset cerebral adrenoleukodystrophy are variable.
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X-linked adrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex.
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Conclusions: Gadolinium enhancement intensity on brain MR imaging can be scored simply and reproducibly for cerebral adrenoleukodystrophy.
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Multislice proton MRSI may be a suitable technique for the prediction of lesion progression on MRI in X-linkedadrenoleukodystrophy.
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So far PGD has been carried out for three carrier females at risk of transmitting X-linkedadrenoleukodystrophy, X-linked hydrocephalus and hemophilia A.
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Magnetic resonance imaging sequences such as diffusion and spectroscopy have been well studied in X-linkedadrenoleukodystrophy, but no data exist on magnetic resonance perfusion imaging.
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X-linkedadrenoleukodystrophy is a neurodegenerative disorder affecting the myelin of the nervous system and the adrenal cortex.
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Technically known as X-linkedALD, it affects boys, typically starting in childhood and killing them in two to three years.
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Pathologic explanation of the roentgenographically identified diffusesclerosis in ES has not been previously well documented in the medical literature.
Uso de x-ald en inglés
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Although different X-ALD phenotypes are recognized, little is known about their evolution.
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However, the mechanisms underlying the brain damage in X-ALD are poorly known.
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It is therefore proposed that oxidative stress may be involved in pathophysiology of X-ALD.
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In this review we report a detailed analysis of all 406 X-ALD mutations currently included in the database.
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Diagnostic tests should be offered to all at-risk relatives of X-ALD patients and should include members of the extended family.
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Objective: The purpose of this study was to determine the long-term sensitivity and specificity of MRSI for disease progression in X-ALD.
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At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic.
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Here, we present a 7-year-old boy who presented with symptoms of inattention and hyperactivity and later turned out to be a case of X-ALD.
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In addition, we review the various X-ALD phenotypes, the different diagnostic tools, and the need for extended family screening for the identification of new patients.
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Since most X-ALD kindreds have a unique mutation, a great number of mutations have been identified in the ABCD1 gene in the last seven years.
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Evaluation of the therapy of X-linked adrenoleukodystrophy (X-ALD) is hampered by its rarity and by the striking and unpredictable variation in phenotypic expression.
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Retrospectively, 129 men with X-ALD were studied who were 1) at least 20 years presently or at the time of death, and 2) regularly monitored.