Article
A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions.
Internal medicine (Tokyo, Japan) - 1 Jan 2015
Tomizawa Yuji, Okuzumi Ayami, Shiotsuki Hiromi, Noda Kazuyuki, Hattori Nobutaka, Okuma Yasuyuki
Abstract excerpt
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...
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