Author(s): Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L,
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Abstract BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies. OBJECTIVE: To evaluate the degree to which MRI patterns can predict lesion progression. METHODS: Two hundred six boys and men with cerebral X-ALD (median age 12.2 years, mean age 18.5 years, age range 1.7 to 73.8 years) were studied. In 140 individuals, follow-up MRI were available. Data after bone marrow transplantation (BMT) were excluded. The patterns of MRI abnormalities were subdivided into five groups based on the anatomic location of the initial T2 signal hyperintensity (pattern 1: parieto-occipital white matter, pattern 2: frontal white matter, pattern 3: corticospinal tract, pattern 4: cerebellar white matter, pattern 5: concomitant parieto-occipital and frontal white matter). The X-ALD MRI Severity Scale, a 34-point scale previously described, was used in the analysis. RESULTS: Pattern 1 patients had rapid progression if contrast enhancement was present and if the MRI abnormality manifested at an early age. The latter was also true for pattern 2 patients. Based on these variables, predictive formulas were constructed for these two patterns using multiple regressions. MRI progression was much slower in pattern 3 and 4 patients, whereas in the few pattern 5 patients, it was more rapid than in any other of the patterns. Patterns 1 and 5 occurred mainly in childhood, patterns 2 and 4 in adolescence, and pattern 3 in adults. CONCLUSIONS: MRI progression in X-ALD depends on patient age, initial MRI Severity Scale score, and anatomic location of the lesion. When used in combination, these data aid the prediction of disease course and the selection of patients for BMT.
This article was published in Neurology
and referenced in Journal of Molecular and Genetic Medicine