X-linked adrenoleukodystrophy: Overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients

被引:140
作者
Moser, HW
Loes, DJ
Melhem, ER
Raymond, GV
Bezman, L
Cox, CS
Lu, SE
机构
[1] Johns Hopkins Med Inst, Kennedy Krieger Inst, Baltimore, MD 21205 USA
[2] Johns Hopkins Med Inst, Dept Neurol, Baltimore, MD 21205 USA
[3] Suburban Radiol Consultants Ltd, Minneapolis, MN USA
[4] Johns Hopkins Med Inst, Dept Radiol & Radiol Sci, Baltimore, MD 21205 USA
[5] Johns Hopkins Univ, Sch Hyg & Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA
关键词
adrenoleukodystrophy; therapy; bone marrow transplant; magnetic resonance imaging; magnetic resonance spectroscopy; prognosis; phenotypes; natural history;
D O I
10.1055/s-2000-9236
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The phenotypic expression of X-linked adrenoleukodystrophy (X-ALD) ranges from the rapidly progressive childhood cerebral form to the milder adrenomyeloneuropathy (AMN) in adults. It is not possible to predict phenotype by mutation analysis or biochemical assays. This study reports on 372 patients ranging in age from less than 3 years to adulthood, who have been followed at the Kennedy Krieger Institute. With the aim of determining whether a method could be developed to predict clinical course by analysis of data available at time of first contact, the patients were subdivided into 18 subgroups on the basis of age and the extent of brain magnetic resonance (MRI) abnormality utilizing the MRI scoring system devised by Lees et al. Scores to grade degree of neurologic and neuropsychologic impairment were also developed. There was strong correlation between MRI and the neurology and neuropsychology scores at baseline. Information based exclusively on age and MRI score at time of first contact was highly predictive of future clinical course and should aid the evaluation of the effects of bone marrow transplantation and the selection of patients for this procedure, as well as the evaluation of other therapies that may be developed in the future.
引用
收藏
页码:227 / 239
页数:13
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