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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.
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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Asymptomatic, adrenomyeloneuropathy and female heterozygote patients had no significant changes in cerebral perfusion.
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Unfortunately, there is no early method of distinguishing it from the more benign forms of adrenoleukodystrophy, such as adrenomyeloneuropathy.
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A 39-year-old male showed rapid progression of cerebral white matter involvement after 8 years' duration of adrenomyeloneuropathy.
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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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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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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.