A Patient with the <i>GLA</i> p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions

Abstract

A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, the patient was suspected to have variant Fabry disease. A GLA mutation analysis showed the p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. Enzyme replacement therapy did not result in a marked improvement, however, the disease progression stopped.

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

“…One mixed-ERT OS publication reported no statistically significant difference in SF-36 scores after a switch from agalsidase beta 1.0 mg/kg EOW to agalsidase alfa 0.2 mg/kg EOW [54] (Supplementary Table 18). A CR described an increase in motivation after 12 months with agalsidase alfa [66].…”