X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients.
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.
Moser
H W
HW
Kennedy Krieger Institute and Department of Neurology, Johns Hopkins Medical Institutions, Baltimore 21205, USA.
Loes
D J
DJ
Melhem
E R
ER
Raymond
G V
GV
Bezman
L
L
Cox
C S
CS
Lu
S E
SE
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D016026:Bone Marrow Transplantation / Q000706:statistics & numerical data; D001921:Brain / Q000002:abnormalities*; D002648:Child; D003937:Diagnosis, Differential; D004338:Drug Combinations; D004883:Erucic Acids / Q000627:therapeutic use*; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D010641:Phenotype; D011379:Prognosis; D011446:Prospective Studies; D012737:Sex Factors; D016896:Treatment Outcome; D014304:Triolein / Q000627:therapeutic use*
D004338:Drug Combinations; D004883:Erucic Acids; C079420:Lorenzo's oil; D014304:Triolein