MRI evidence of white matter hyperintensity (WMH), lacunar infarcts, and cerebral microbleeds characterizes cerebral small vessel disease (SVD).1 These microangiopathic imaging markers occur with high prevalence in Fabry disease (FD),… Click to show full abstract
MRI evidence of white matter hyperintensity (WMH), lacunar infarcts, and cerebral microbleeds characterizes cerebral small vessel disease (SVD).1 These microangiopathic imaging markers occur with high prevalence in Fabry disease (FD), an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene leading to the accumulation of globotriaosylceramide in different cellular compartments, especially the lysosome.2 However, the underlying mechanisms for cerebrovascular damage in SVD and FD may fundamentally differ as prior studies have demonstrated an increase of cerebral blood flow (CBF) in FD,3,4 whereas patients with sporadic SVD typically have reduced CBF.5
               
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