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Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee, T-H; Yang, J-T; Lee, J-D; Chang, K-C; Peng, T-I; Chang, T-Y; Huang, K-L; Liu, C-H; Ryu, S-J; Burlina, A P.
Afiliação
  • Lee TH; Department of Neurology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
  • Yang JT; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Lee JD; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Chang KC; Department of Neurosurgery, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan.
  • Peng TI; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Chang TY; Department of Neurology, Chiayi Chang Gung Memorial Hospital, Chiayi, Taiwan.
  • Huang KL; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Liu CH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
  • Ryu SJ; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Burlina AP; Department of Neurology, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan.
Eur J Neurol ; 26(3): 553-555, 2019 03.
Article em En | MEDLINE | ID: mdl-30103270
ABSTRACT
BACKGROUND AND

PURPOSE:

Fabry disease is an X-linked disease, and enzyme-based screening methods are not suitable for female patients.

METHODS:

In total, 1000 young stroke patients (18-55 years, 661 with ischaemic stroke and 339 with hypertensive intracerebral hemorrhage) were recruited. The Sequenom iPLEX assay was used to detect 26 Fabry related mutation genes. The frequency of Fabry disease in young stroke was reviewed and compared between Asian and non-Asian countries.

RESULTS:

Two male patients with ischaemic stroke were found to have a genetic mutation of IVS4+919G>A. There was no α-galactosidase A (GLA) gene mutation in female patients. The frequency in Asian stroke patients was 0.62% (male vs. female 0.63% vs. 0.58%) with 0.72% for ischaemic stroke and none for hemorrhagic stroke, compared to 0.88% (0.77% vs. 1.08%) with 0.83% for ischaemic stroke and 1.40% for hemorrhagic stroke reported in western countries.

CONCLUSION:

IVS4+919G>A is the GLA mutation in Taiwanese young ischaemic stroke patients. Fabry disease is more frequent among non-Asian patients compared to Asian patients.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Isquemia Encefálica / Testes Genéticos / Doença de Fabry / Acidente Vascular Cerebral Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Isquemia Encefálica / Testes Genéticos / Doença de Fabry / Acidente Vascular Cerebral Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article