title: Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.
abstract: 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.
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.|Department of Neurology, Ina Central Hospital, Ina, Japan.
authors.forename: Kiyoshiro
authors.initials: K
authors.lastname: Nagamatsu
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.|Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Sekijima
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Katsuya
authors.identifier: http://orcid.org/0000-0003-2342-1089
authors.initials: K
authors.lastname: Nakamura
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kumamoto University, Kumamoto, Japan.
authors.forename: Kimitoshi
authors.initials: K
authors.lastname: Nakamura
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kumamoto University, Kumamoto, Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Hattori
authors.affiliation: Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Ota
authors.affiliation: Department of Neurology, Ina Central Hospital, Ina, Japan.
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Shimizu
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kumamoto University, Kumamoto, Japan.
authors.forename: Fumio
authors.initials: F
authors.lastname: Endo
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.|Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.
authors.forename: Shu-Ichi
authors.initials: SI
authors.lastname: Ikeda
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D003710:Demography; D057075:Enzyme Assays; D000795:Fabry Disease / Q000150:complications / Q000201:enzymology* / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D020521:Stroke / Q000150:complications*; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase