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

Arquivos de Neuro-Psiquiatria

Charles Marques Lourenço²  Gustavo Novelino Simão¹  Antonio Carlos Santos¹  Wilson Marques Jr¹ 

[1] ,University of São Paulo School of Medicine of Ribeirão Preto Clinics HospitalRibeirão Preto SP ,Brazil

关键词: adrenoleukodystrophy;    X-linked disorder;    heterozygous carriers;    adrenoleucodistrofia;    doença recessiva ligada ao X;    portadoras heterozigotas;   

DOI  :  10.1590/S0004-282X2012000700003

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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