|
|
|
|
At least six phenotypes can be distinguished,of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy.The X-ALD gene has been identified,but thus far no relation between genotype and phenotype has been found.Diagnosis is relatively easy and can be confirmed reliably,and prenatal testing is possible in affected families.Several therapeutic options,some with promising perspectives,are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD.In this review,the clinical presentation,the relative frequencies of the different phenotypes,and the diagnostic and therapeutic options are presented. |
|