title: A Patient with the GLA 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.
authors.affiliation: Department of Neurology, Juntendo University Shizuoka Hospital, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Tomizawa
authors.forename: Ayami
authors.initials: A
authors.lastname: Okuzumi
authors.forename: Hiromi
authors.initials: H
authors.lastname: Shiotsuki
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Noda
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hattori
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Okuma
mesh_terms: D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000097:blood / Q000209:etiology / Q000235:genetics*; D020649:Pulvinar / Q000473:pathology*; D012307:Risk Factors; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000097:blood*
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase