X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD ) is a recessive X-linked disorder associated with marked phenotypic variability . Female carriers are commonly thought to be normal or only mildly affected , but their disease still needs to be better described and systematized .To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic .We reviewed the clinical , biochemical , and neuroradiological data of all women known to have X-ADL .The nine women identified were classified into three groups : with severe and aggressive diseases ; with slowly progressive , spastic paraplegia ; and with mildly decreased vibratory sensation , brisk reflexes , and no complaints . Many of these women did not have a known family history of X-ALD .Heterozygous women with X-ADL have a wide spectrum of clinical manifestations , ranging from mild to severe phenotypes .