Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease

ConclusionAlthough heterozygous, Fabry females show severe enlarged dorsal root ganglia with a concomitant dysfunctional perfusion, even in patients with minor disease progression and in patients who are not considered for enzyme replacement therapy yet. Alterations in dorsal root ganglia volume and perfusion might serve as a very early in vivo marker for involvement of the peripheral nervous system in Fabry disease, even in patients with residual enzyme activity.

Source: Journal of Neurology - September 12, 2018 Category: Neurology Source Type: research