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Human Molecular Genetics, 2002, Vol. 11, No. 5 499-505
© 2002 Oxford University Press

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy

Aurora Pujol+, Colette Hindelang, Noëlle Callizot1, Udo Bartsch2, Melitta Schachner2 and Jean Louis Mandel

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P. 163, 67404 ILLKIRCH Cedex, C.U. de Strasbourg, France, 1Societé Neurofit, SA 67404 ILLKIRCH Cedex, C.U. de Strasbourg, France and 2Zentrum für Molekulare Neurobiologie, Martinistrasse 52, D 20246 Hamburg, Germany

Adrenomyeloneuropathy (AMN) and cerebral childhood adrenoleukodystrophy (CCALD) are the main phenotypic variants of an X-linked inherited metabolic disorder causing demyelination, X-linked adrenoleukodystrophy (X-ALD). It is caused by mutations in the ABCD1 (ALD) gene encoding a peroxisomal ABC transporter. Inactivation of the murine ALD gene does not lead to a detectable clinical phenotype in mice up to 6 months, and no cerebral pathology resembling the childhood form (CCALD) was observed. In this work, we show that older ALD-deficient mice exhibit an abnormal neurological and behavioral phenotype, starting at around 15 months. This is correlated with slower nerve conduction, and with myelin and axonal anomalies detectable in the spinal cord and sciatic nerve, but not in brain. The phenotype of ALD-deficient mice mimics features of human AMN, thus providing a model for investigating the pathogenesis of this disease.

+ To whom correspondence should be addressed. Tel: +33 3 88 65 32 44; Fax: +33 3 88 65 32 46; Email: apujol@igbmc.u-strasbg.fr


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