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• W2054085362 abstract "<i>Background and Purpose:</i> Cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease whose clinical expression is a stepwise subcortical vascular dementia. Initial presentation of the disease involves transient or stabilized focal neurological deficits, migraine and mood changes. Recently, a high prevalence of right-to-left shunt (RLS) due to patent foramen ovale has been reported in subjects with migraine. The aim of our study was to determine the prevalence of RLS in CADASIL with and without migraine. <i>Methods:</i> We performed transcranial Doppler with gaseous contrast in 5 members of an Italian family with CADASIL, diagnosed by means of genetic and skin biopsy criteria. We then compared the prevalence of RLS in 40 consecutive subjects with juvenile stroke, 80 asymptomatic subjects affected by migraine with aura and 50 normal controls. <i>Results:</i> A very high prevalence of RLS was found in CADASIL patients (4/5, 80%), as opposed to young subjects with ischemic stroke (15/40, 37%), asymptomatic subjects with migraine (32/80, 40%) and normal controls (8/50, 16%). All the subjects with CADASIL and migraine (4/4) showed RLS. The difference between CADASIL patients and controls was highly significant (p = 0.006). <i>Conclusions:</i> We suggest an association between CADASIL and RLS, possibly due to the abnormal development of the endocardial cushion influenced by Notch 3 mutation. Our hypothesis needs to be tested in larger samples." @default.
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• W2054085362 date "2001-01-01" @default.
• W2054085362 modified "2023-09-23" @default.
• W2054085362 title "Very High Prevalence of Right-to-Left Shunt on Transcranial Doppler in an Italian Family with Cerebral Autosomal Dominant Angiopathy with Subcortical Infarcts and Leukoencephalopathy" @default.
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• W2054085362 doi "https://doi.org/10.1159/000050804" @default.
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