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.
journal_name
Eur J Neuroljournal_title
European journal of neurologyauthors
Lee TH,Yang JT,Lee JD,Chang KC,Peng TI,Chang TY,Huang KL,Liu CH,Ryu SJ,Burlina APdoi
10.1111/ene.13775subject
Has Abstractpub_date
2019-03-01 00:00:00pages
553-555issue
3eissn
1351-5101issn
1468-1331journal_volume
26pub_type
杂志文章,评审abstract:BACKGROUND:Chronic progressive external ophthalmoplegia (CPEO) is a relatively common mitochondrial disorder. In addition to extraocular muscle weakness, various other organs can typically be affected, including laryngeal and limb muscles, cerebrum, cerebellum, and peripheral nerves. Given this multi-organ involvement,...
journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
pub_type: 杂志文章
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2005.01047.x
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1046/j.1468-1331.1998.520181.x
更新日期:1998-03-01 00:00:00
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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journal_title:European journal of neurology
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2000-09-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2009.02944.x
更新日期:2010-06-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.1995.tb00131.x
更新日期:1995-09-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
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更新日期:2004-10-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/ene.14564
更新日期:2020-09-30 00:00:00
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journal_title:European journal of neurology
pub_type: 临床试验,杂志文章
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更新日期:2002-01-01 00:00:00
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2008.02311.x
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journal_title:European journal of neurology
pub_type: 杂志文章
doi:10.1111/j.1468-1331.2006.01688.x
更新日期:2007-05-01 00:00:00