Natural history of a cohort of ABCD1 variant female carriers

Background and purpose The therapeutic scenario of X‐linked adrenoleukodystrophy (X‐ ALD ) is rapidly changing. Whereas the disease is well characterized in men, the condition remains to be fully clarified in women carrying ATP binding cassette subfamily D member 1 ( ABCD1 ) variants. Specifically, data on clinical progression are needed, in order to recommend any appropriate management. The objective of this study was to outline the natural...