Short communication| Volume 279, ISSUE 1-2, P118-120, April 15, 2009

Amelioration of white-matter lesions in a patient with Fabry disease

Published:January 30, 2009DOI:


      We report on a 27-year-old man with Fabry disease who had widespread white-matter lesions (WMLs) despite the absence of renal or cardiac manifestations. Genomic analysis revealed a novel mutation: a GAT deletion at nucleotide position 234–236 in exon 5 of the coding region. After 12 months of enzyme replacement therapy (ERT), most of the WMLs had disappeared. Cell counts and protein levels in the cerebrospinal fluid also decreased. These findings suggest that ERT may play a role in the recovery of WMLs.


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