Natural history of a cohort of ABCD1 variant female carriers.

Tommaso SchirinziG VascoC AielloC RizzoA SancesarioA RomanoM FavettaM PetrarcaL PaoneE CastelliE S BertiniM Cappa

Published in: European journal of neurology (2018)

This study provides data on the natural disease progression of untreated ABCD1 heterozygous female carriers, demonstrating the relevance of aging. The estimated annual increase of the AACS will be useful for future interventional studies.

Keyphrases

early onset
electronic health record
current status
big data
case control