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

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 l...

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Veröffentlicht in:	Internal Medicine 2015, Vol.54(19), pp.2503-2506
Hauptverfasser:	Tomizawa, Yuji, Okuzumi, Ayami, Shiotsuki, Hiromi, Noda, Kazuyuki, Hattori, Nobutaka, Okuma, Yasuyuki
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Galactosidase - blood Diagnosis, Differential Disease Progression DNA Mutational Analysis Enzyme Replacement Therapy Fabry disease Fabry Disease - blood Fabry Disease - diagnosis Fabry Disease - genetics Humans Male Middle Aged Mutation - genetics Parkinsonian Disorders - blood Parkinsonian Disorders - etiology Parkinsonian Disorders - genetics Pulvinar - pathology pulvinar sign Risk Factors Treatment Outcome vascular parkinsonism
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