Abstract
X-linked adrenoleukodystrophy (XALD) is a genetically determined disorder that mainly involves the adrenal cortex and white matter structures of the CNS. Inheritance is X-linked recessive. The disease has a wide phenotypic variability. The childhood cerebral form is the most frequent and accounts for about half of the cases. The second most common form is adrenomyeloneuropathy (AMN), which accounts for about a quarter to one-third of the patients. The less frequently occurring forms are the adolescent cerebral form, the adult cerebral form and the Addison-only form. In addition, there are asymptomatic cases and cases with unusual presentation. These different phenotypes may occur within one affected family.
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van der Knaap, M.S., Valk, J. (1995). X-linked Adrenoleukodystrophy. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03078-3_19
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