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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ischemic stroke, white matter hyperintensities related to small vessel ischemia, and intracranial aneurysms all show heritability. This review focuses on recent progress in understanding the molecular genetics of these disorders. Also reviewed is recent progress in understanding single-gene disorders in which stroke is a major feature of the phenotype, including CADASIL, CARASIL, hereditary angiopathy with nephropathy, aneurysm and muscle cramps, and Fabry disease and progress in pharmacogenomics as it relates to response to antiplatelet therapy.
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PMID:New information on the genetics of stroke. 2105 51

Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac embolism, large and small vessel disease, while hemorrhagic stroke is usually attributed to hypertension. Deposition of glycosphingolipids in endothelial cells results in a specific FD vasculopathy that contributes to the different vascular phenotypes. Neuroimaging features of cerebrovascular involvement in FD include white matter lesions, dolichoectasia, and the "pulvinar sign", a T1 MRI hyperintensity of the posterior thalamus. The role of enzymatic replacement therapy in the prevention of stroke remains to be established, but its utilization should be considered in FD stroke patients, for prevention of renal and cardiac complications, together with general prevention measures. Enzymatic replacement therapy increased our awareness of FD, underlining the importance of incomplete phenotypes in specific settings such as stroke. An overview of studies on the prevalence of FD in stroke patients is presented. Available data suggest that prevalence of FD is similar to some of the rare causes of stroke usually considered, and that classic features of the disease may be absent or more subtle. Moreover, FD should be considered in both cryptogenic and all-cause stroke. The role of FD in stroke on a multifactorial basis and the identification of a putative "stroke variant" are questions that need to be further elucidated in future studies.
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PMID:Stroke and Fabry disease. 2203 50

Ischaemic stroke (IS) in young adults has been increasingly recognized as a serious health condition. Stroke aetiology is different in young adults than in the older population. This study aimed to investigate aetiology and risk factors, and to search for predictors of outcome and recurrence in young IS patients. We conducted a prospective multicentre study of consecutive IS patients aged 16-55 years. Baseline demographic data, risk factors, stroke aetiology including systematic genetic screening for Fabry disease and severity were assessed and related to functional neurological outcome (modified Rankin Scale, mRS), case fatality, employment status, place of residence, and recurrent cerebrovascular events at 3 months. In 624 IS patients (60% men), median age was 46 (IQR 39-51) years and median NIHSS on admission 3 (IQR 1-8). Modifiable vascular risk factors were found in 73%. Stroke aetiology was mostly cardioembolism (32%) and of other defined origin (24%), including cervicocerebral artery dissection (17%). Fabry disease was diagnosed in 2 patients (0.3%). Aetiology remained unknown in 20%. Outcome at 3 months was favourable (mRS 0-1) in 61% and fatal in 2.9%. Stroke severity (p < 0.001) and diabetes mellitus (p = 0.023) predicted unfavourable outcome. Stroke recurrence rate at 3 months was 2.7%. Previous stroke or TIA predicted recurrent cerebrovascular events (p = 0.012). In conclusion, most young adults with IS had modifiable vascular risk factors, emphasizing the importance of prevention strategies. Outcome was unfavourable in more than a third of patients and was associated with initial stroke severity and diabetes mellitus. Previous cerebrovascular events predicted recurrent ones.
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PMID:Risk factors, aetiology and outcome of ischaemic stroke in young adults: the Swiss Young Stroke Study (SYSS). 2666 78