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

UNLABELLED: 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.

OBJECTIVES

To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic.

METHODS

We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL.

RESULTS

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.

CONCLUSIONS

Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.