Negative for D313Y

MR images of family members that were negative for D313Y did not show any white matter changes.

Upper row: Sagittal FLAIR-sequence; median and lower row: Axial T2-weighted sequences of subject III.16 and III.17. The family is carrying the GLA D313Y mutation and being affected by a potentially exclusive neurologic manifestation of the CNS with multifocal WML, in the absence of other FD-specific symptoms. Evidence that GLA D313Y could be involved in neural damage with consecutive WML, demonstrating the necessity of evaluating patients carrying D313Y more thoroughly.