Pathologic findings in adrenoleukodystrophy heterozygotes.
Two women, heterozygous for X-linked adrenoleukodystrophy, contained striated adrenocortical cells without inflammation and central nervous system demyelinative lesions. Only one was symptomatic neurologically; neither exhibited hypoadrenalism. These findings further document the variability of adrenoleukodystrophy heterozygotes and provide evidence that the major pathologic differences between hemizygote and heterozygote are quantitative in nature.
D000311:Adrenal Glands / Q000473:pathology; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D001921:Brain / Q000473:pathology; D003704:Dementia / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D014960:X Chromosome