• Internal medicine · Jan 2015

    Case Reports

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

    • Yuji Tomizawa, Ayami Okuzumi, Hiromi Shiotsuki, Kazuyuki Noda, Nobutaka Hattori, and Yasuyuki Okuma.
    • Department of Neurology, Juntendo University Shizuoka Hospital, Japan.
    • Intern. Med. 2015 Jan 1; 54 (19): 2503-6.

    AbstractA 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.

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