The purpose of this study is to determine the incidence of Fabry Disease in young stroke patients in an Israeli stroke clinic.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
1,000
Dry blood spots (DBS) analysis of a- galactosidase-A activity will be used for male patients' diagnosis. Males and females with enzymatic activity bellow the test's cut-off will be further diagnosed by gene sequencing. Since females are heterozygote and may have high residual levels of active enzyme, female patients with a- galactosidase-A activity of 30% bellow averaged normal range will also be further diagnosed by gene sequencing as described before (8).
Neurology Dept. Edith Wolfson Medical Center
Holon, Israel
positive screening of fabry disease
Time frame: past 5 years
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