Progress in X-linked adrenoleukodystrophy

The purpose of this article is to review and evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and 2003.

X-linked adrenoleukodystrophy has two distinct neurological phenotypes: adrenomyeloneuropathy, a non-inflammatory axonopathy mostly in adults, and an intensely inflammatory cerebral myelinopathy mostly in children. The two forms often co-occur in the same family. Heterozygous women and the X-linked adrenoleukodystrophy mouse model often have the adrenomyeloneuropathy phenotype. More than 500 distinct mutations in the defective gene (ABCD1) have been identified, and except in one unique family, do not correlate with the phenotype. Bone marrow transplantation is beneficial in patients with early cerebral involvement. A panel of brain neuroimaging studies aids the selection of patients for bone marrow transplantation. Lorenzo's oil administered to neurologically asymptomatic boys who are less than 6 years old and have a normal magnetic resonance imaging scan appears to reduce the probability of developing neurological abnormalities later in life.

Progress has been achieved in the delineation of the phenotypes, pathogenesis, diagnosis and prevention of X-linked adrenoleukodystrophy, and therapies are emerging.