Naoto Kinoshita1, Naohisa Hosomi2, Hayato Matsushima3, Masahiro Nakamori4, Yoshiki Yagita5, Takemori Yamawaki6, Tsuyoshi Torii7, Takeshi Kitamura8, Yoshimasa Sueda9, Ryo Shimomura1, Mutsuko Araki1, Tomohisa Nezu1, Shiro Aoki1, Satoshi Ishii10, Hiroki Maruyama11, Masayasu Matsumoto1, Hirofumi Maruyama1. 1. Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. 2. Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. Electronic address: nhosomi@hiroshima-u.ac.jp. 3. Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan; Department of Neurology, Suiseikai Kajikawa Hospital, Hiroshima, Japan. 4. Department of Neurology, Suiseikai Kajikawa Hospital, Hiroshima, Japan. 5. Department of Stroke Medicine, Kawasaki Medical School, Kurashiki, Japan. 6. Department of Neurology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan. 7. Department of Neurology, National Hospital Organization Kure Medical Center, Kure, Japan. 8. Department of Neurology, Chugoku Rosai Hospital, Kure, Japan. 9. Department of Neurology, National Hospital Organization Higashihiroshima Medical Center, Higashihiroshima, Japan. 10. GlycoPharma Corporation, Oita, Japan. 11. Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Abstract
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese stroke patients. We aimed to clarify the prevalence of Fabry disease and the frequency of GLA mutations among patients with young-onset stroke in Japan. METHODS: From April 2015 to December 2016, we enrolled patients with young-onset (≤60 years old) ischemic stroke or intracerebral hemorrhage. We measured α-Gal A activity and the concentration of globotriaosylsphingosine in plasma. Genetic evaluations were performed in patients with low α-Gal A activity or high concentrations of globotriaosylsphingosine. RESULTS: Overall, 516 patients (median age of onset, 52 years old; 120 women) were consecutively enrolled in this study. Five patients (4 men and 1 woman) had low α-Gal A activity, and no patients were detected with the screen for plasma globotriaosylsphingosine levels. The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA. CONCLUSIONS: No patient with Fabry disease was detected in our young-onset stroke cohort.
BACKGROUND:Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese strokepatients. We aimed to clarify the prevalence of Fabry disease and the frequency of GLA mutations among patients with young-onset stroke in Japan. METHODS: From April 2015 to December 2016, we enrolled patients with young-onset (≤60 years old) ischemic stroke or intracerebral hemorrhage. We measured α-Gal A activity and the concentration of globotriaosylsphingosine in plasma. Genetic evaluations were performed in patients with low α-Gal A activity or high concentrations of globotriaosylsphingosine. RESULTS: Overall, 516 patients (median age of onset, 52 years old; 120 women) were consecutively enrolled in this study. Five patients (4 men and 1 woman) had low α-Gal A activity, and no patients were detected with the screen for plasma globotriaosylsphingosine levels. The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA. CONCLUSIONS: No patient with Fabry disease was detected in our young-onset stroke cohort.
Authors: Aleš Tomek; Reková Petra; Jaroslava Paulasová Schwabová; Anna Olšerová; Miroslav Škorňa; Miroslava Nevšímalová; Libor Šimůnek; Roman Herzig; Štěpánka Fafejtová; Petr Mikulenka; Alena Táboříková; Jiří Neumann; Richard Brzezny; Helena Sobolová; Jan Bartoník; Daniel Václavík; Marta Vachová; Karel Bechyně; Hana Havlíková; Tomáš Prax; Daniel Šaňák; Irena Černíková; Iva Ondečková; Petr Procházka; Jan Rajner; Miroslav Škoda; Jan Novák; Ondřej Škoda; Michal Bar; Robert Mikulík; Gabriela Dostálová; Aleš Linhart Journal: PLoS One Date: 2021-12-14 Impact factor: 3.240
Authors: Juan Fernando Ortiz; Jashank Parwani; Paul W Millhouse; Ahmed Eissa-Garcés; Gashaw Hassen; Victor D Cuenca; Ivan Mateo Alzamora; Mahika Khurana; Domenica Herrera-Bucheli; Abbas Altamimi; Adam Atoot; Wilson Cueva Journal: Cureus Date: 2021-11-08