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   Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients  
   
نویسنده Nagamatsu Kiyoshiro ,Sekijima Yoshiki ,Nakamura Katsuya ,Nakamura Kimitoshi ,Hattori Kiyoko ,Ota Masao ,Shimizu Yusaku ,Endo Fumio ,Ikeda Shu-ichi
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 7 - صفحه:665 -670
چکیده    Fabry disease is an important underlying disease in young cryptogenic stroke patients. however, little is known regarding the frequency of fabry disease in the general stroke population, especially in elderly patients. a total of 588 stroke patients (61.7% men; average age 74.1±12.5 years) were enrolled in this prospective study. blood samples were obtained to produce blood spots to determine α-galactosidase a (α-gala) activity and for gla gene analysis. one 65-year-old female patient had a known gla gene mutation, c.2t>c (p.m1t), causing fabry disease. five male patients and two female patients had gla c.196g>c (p.e66q) variant, which is not associated with the full clinical manifestations of fabry disease. the allele frequency of gla c.196g>c was significantly higher in male patients with small-vessel occlusion (odds ratio 3.95, p=0.048) and non-cardioembolism (odds ratio 4.08, p=0.012) than that in the general japanese population. fabry disease is rare in the general japanese stroke population. however, screening identified one elderly female patient with fabry disease. gla c.196g>c variant is a genetic risk factor for cerebral small-vessel occlusion and non-cardioembolism in japanese males but not in females.
آدرس Shinshu University School of Medicine, Department of Medicine (Neurology and Rheumatology), Japan. Ina Central Hospital, Department of Neurology, Japan, Shinshu University School of Medicine, Department of Medicine (Neurology and Rheumatology), Japan. Shinshu University, Japan, Shinshu University School of Medicine, Department of Medicine (Neurology and Rheumatology), Japan, Kumamoto University, Department of Pediatrics, Japan, Kumamoto University, Department of Pediatrics, Japan, Shinshu University School of Medicine, Department of Legal Medicine, Japan, Ina Central Hospital, Department of Neurology, Japan, Kumamoto University, Department of Pediatrics, Japan, Shinshu University School of Medicine, Department of Medicine (Neurology and Rheumatology), Japan. Shinshu University, Japan
 
     
   
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