Fabry disease in unselected patients with TIA or stroke: population-based study
| Autor: | Derralynn Hughes, Annette I. Burgess, L Marquardt, RJ Baker, Peter M. Rothwell, Helen Segal, D Poole |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
medicine.medical_specialty
education.field_of_study business.industry Cerebral infarction Population Gene mutation medicine.disease Fabry disease Confidence interval Surgery Neurology Internal medicine Epidemiology medicine Neurology (clinical) cardiovascular diseases Young adult business education Stroke |
| Popis: | Background Fabry disease (FD) is an X-linked lysosomal storage disorder frequently associated with cerebrovascular disease. In recent years, the prevalence of FD has been reported to be up to 4% in cryptogenic young stroke patients. However, there have been no population-based studies in unselected patients with transient ischaemic attack (TIA) or stroke across the full range of ages. Methods We determined the prevalence of FD mutations in consecutive patients from a population-based study of acute TIA or ischaemic stroke (Oxford Vascular Study). Analysis included amplifying of the α-galactosidase A gene by polymerase chain reaction, denaturing high-performance liquid chromatography (dHPLC) analysis and sequencing using standard automated sequencing protocols [Mutation Surveyor software (Softgenetics)] where the dHPLC indicated a possible mutation. Results Samples of 1046 consecutive patients (52% women; mean age 73.2 years; 15% age |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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