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[Adrenoleukodystrophy and adrenomyeloneuropathy].

Authors: C, Masson;

[Adrenoleukodystrophy and adrenomyeloneuropathy].

Abstract

In adrenoleukodystrophy, demyelinization of the cerebral hemispheres is associated with Addison's disease. The condition is hereditary and transmitted as a sex-linked recessive trait. The diagnosis must be considered in male teenagers with deterioration of mental functions, motricity and vision and with a computed tomographic image of white matter hypodensity predominant in the posterior part of the cerebral hemispheres. An accumulation of very long chain fatty acids, and characteristic lamellar cytoplasmic inclusions are the biochemical and ultrastructural markers of the disease. Adrenomyeloneuropathy differs from adrenoleukodystrophy in that it begins during adulthood and produces neurological symptoms, notably progressive spastic paraparesis associated with peripheral neuropathy. Heterozygous women can be identified by measurements of very long chain fatty acids in plasma and fibroblast cultures; they sometimes develop spastic paraparesis. The prenatal diagnosis rests on the determination of very long chain fatty acids in amniotic cells.

Keywords

Adult, Male, Heterozygote, Fatty Acids, Infant, Newborn, Diffuse Cerebral Sclerosis of Schilder, Nervous System, Diagnosis, Differential, Child, Preschool, Humans, Female, Adrenoleukodystrophy, Child

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1
Average
Average
Average
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