Abstract
The natural history of X-linked adrenoleukodystrophy (ALD) was investigated, using
a nation-wide retrospective study based on a questionnaire survey. The data on 145
patients, including 46 patients with the childhood cerebral form, 39 with adrenomyeloneuropathy
(AMN), 33 with the adult cerebral form, 14 with the adolescent form and 13 with the
olivo-ponto-cerebellar (OPC) form, were analyzed. Initial symptoms of the childhood
cerebral form were intellectual (n=16) and visual (n=11) disturbances, whereas those of AMN were gait (n=37) and sensory (n=3) disturbances; the adult cerebral form, psychic (n=19) and gait (n=11) disturbances; the adolescent form, visual n=5) and gait (n=4) disturbances; and the OPC form, gait (n=9) disturbance. Patients with onset under the age of 8 years progressed more rapidly
than those over 8 years old. Visual, hearing, gait and swallowing disturbances progressed
more slowly in the older group. About half of AMN patients showed cerebral involvement
about 10 years after onset. Patients with the OPC form also showed a similar progression.
A Kaplan–Meier plot clarified the characteristic pattern of progression of neurological
symptoms in each phenotype. These finding will improve the understanding of the natural
history of X-linked ALD and will provide a basis for the evaluation of specific treatment
for X-linked ALD.
Keywords
Abbreviations:
ALD (adrenoleukodystrophy), AMN (adrenomyeloneuropathy), VLCFA (very long chain fatty acid), OPC (olivo-ponto-cerebellar), BMT (bone marrow transplantation)To read this article in full you will need to make a payment
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Article info
Publication history
Accepted:
September 22,
2004
Received in revised form:
September 20,
2004
Received:
November 10,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
