X-Linked Adrenoleukodystrophy: Overview and Prognosis as a Function of Age and Brain Magnetic Resonance Imaging Abnormality. A Study Involving 372 Patients

H. W. Moser; D. J. Loes; E. R. Melhem; G. V. Raymond; Lena Bezman; Christiane S. Cox; Shou-en Lu

doi:10.1055/s-2000-9236

Neuropediatrics, Table of Contents

Neuropediatrics 2000; 31(5): 227-239
DOI: 10.1055/s-2000-9236

The Peter Emil Becker Memorial Lecture 1999

Georg Thieme Verlag Stuttgart · New York

X-Linked Adrenoleukodystrophy: Overview and Prognosis as a Function of Age and Brain Magnetic Resonance Imaging Abnormality. A Study Involving 372 Patients

H. W. Moser¹ , D. J. Loes² , E. R. Melhem³ , G. V. Raymond¹ , Lena Bezman¹ , Christiane S. Cox¹ , Shou-en Lu⁴

¹ Kennedy Krieger Institute and Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, USA
² Suburban Radiologic Consultants Ltd., Minneapolis, USA
³ Department of Radiology and Radiological Sciences, The Johns Hopkins Medical Institutions, Baltimore, USA
⁴ Departments of Biostatistics, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, USA

Abstract

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 Loes 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.

Key words

Adrenoleukodystrophy - Therapy - Bone marrow transplant - Magnetic resonance imaging - Magnetic resonance spectroscopy - Prognosis - Phenotypes - Natural history

Full Text

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