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Titolo:
Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcorticalinfarcts and leukoencephalopathy
Autore:
Angeli, S; Carrera, P; Del Sette, M; Assini, A; Grandis, M; Biancolini, D; Ferrari, M; Gandolfo, C;
Indirizzi:
Univ Genoa, Dept Neurol Sci & Vis, I-16132 Genoa, Italy Univ Genoa GenoaItaly I-16132 pt Neurol Sci & Vis, I-16132 Genoa, Italy San Raffaele Sci Inst, Dept Genet & Mol Biol, I-20132 Milan, Italy San Raffaele Sci Inst Milan Italy I-20132 Mol Biol, I-20132 Milan, Italy
Titolo Testata:
EUROPEAN NEUROLOGY
fascicolo: 4, volume: 46, anno: 2001,
pagine: 198 - 201
SICI:
0014-3022(2001)46:4<198:VHPORS>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENETIC-HETEROGENEITY; NOTCH3 MUTATIONS; CADASIL PATIENTS; MIGRAINE; ARTERIOPATHY; DEFECTS; AURA;
Keywords:
cerebral autosomal dominant angiopathy with; subcortical infarcts and leukoencephalopathy; (CADASIL); stroke; migraine; foramen ovale, patent; transcranial Doppler;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Del Sette, M Univ Genoa, Dept Neurol Sci & Vis, Via Toni 5, I-16132 Genoa,Italy Univ Genoa Via Toni 5 Genoa Italy I-16132 16132 Genoa, Italy
Citazione:
S. Angeli et al., "Very high prevalence of right-to-left shunt on transcranial Doppler in an Italian family with cerebral autosomal dominant angiopathy with subcorticalinfarcts and leukoencephalopathy", EUR NEUROL, 46(4), 2001, pp. 198-201

Abstract

Background and Purpose: 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, ahigh 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. Methods:We performed transcranial Doppler with gaseous contrast in 5 members of anItalian family with CADASIL, diagnosed by means of genetic and skin biopsycriteria. 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. Results: 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). Conclusions: 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. Copyright (C) 2001 S. Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 23:50:32