X-linked adrenoleukodystrophy (ALD) is a worldwide genetic disease, rare and serious, of the family of leukodystrophies. Its incidence of 1 for 17 000 births makes it, however, the most common type of leukodystrophy. It is a metabolic disease which affect the brain, the bone marrow and peripheral nerves, but also the adrenal (and the testis) as part of its name « adreno- » refers to.
Adrenoleukodystrophy can be visible during childhood, adolescence or adulthood and can present itself under different forms:
• lMost commonly the disease is slowly progressive and affects the bone marrow and, to less extend, the peripheral nerves in men and women: this is adrenomyeloneuropathy (AMN) which strike the motor functional prognosis of the lower limbs.
• lMore rarely under the form of a rapidly evolving brain disease (cerebral ALD) in boys and adults men, which ends dramatically in absence of bone marrow transplant.