Alessia Giossi1, Marco Ritelli1, Paolo Costa1, Andrea Morotti1, Loris Poli1, Elisabetta Del Zotto1, Irene Volonghi1, Nicola Chiarelli1, Massimo Gamba1, Paolo Bovi1, Giampaolo Tomelleri1, Monica Carletti1, Nicoletta Checcarelli1, Giorgio Meneghetti1, Michele Morra1, Mauro Chinaglia1, Valeria De Giuli1, Marina Colombi1, Alessandro Padovani1, Alessandro Pezzini2. 1. From the U.O. Neurologia (A.G.), Istituto Clinico S. Anna, Brescia; Dipartimento di Scienze Cliniche e Sperimentali (P.C., A.M., L.P., I.V., V.D.G., A. Padovani, A. Pezzini), Clinica Neurologica, Università degli Studi di Brescia; U.O. di Recupero e Rieducazione Funzionale (E.D.Z.), IRCCS Fondazione Don Gnocchi, Milano; Stroke Unit (M.G.), Neurologia Vascolare, Spedali Civili di Brescia; U.O. Neurologia (P.B., G.T., M. Carletti), Azienda Ospedaliera-Universitaria Borgo Trento, Verona; U.O.C. Neurologia (N. Checcarelli), Ospedale Valduce, Como; Dipartimento di Neuroscienze (G.M.), Università di Padova; U.O.C. Neurologia (M.M.), Ospedale di Arzignano; S.O.C. Neurologia (M. Chinaglia), Ospedale di Rovigo; and Sezione di Biologia e Genetica (M.R., N. Chiarelli, M. Colombi), Dipartimento di Medicina Molecolare e Traslazionale, Università degli Studi di Brescia, Italia. 2. From the U.O. Neurologia (A.G.), Istituto Clinico S. Anna, Brescia; Dipartimento di Scienze Cliniche e Sperimentali (P.C., A.M., L.P., I.V., V.D.G., A. Padovani, A. Pezzini), Clinica Neurologica, Università degli Studi di Brescia; U.O. di Recupero e Rieducazione Funzionale (E.D.Z.), IRCCS Fondazione Don Gnocchi, Milano; Stroke Unit (M.G.), Neurologia Vascolare, Spedali Civili di Brescia; U.O. Neurologia (P.B., G.T., M. Carletti), Azienda Ospedaliera-Universitaria Borgo Trento, Verona; U.O.C. Neurologia (N. Checcarelli), Ospedale Valduce, Como; Dipartimento di Neuroscienze (G.M.), Università di Padova; U.O.C. Neurologia (M.M.), Ospedale di Arzignano; S.O.C. Neurologia (M. Chinaglia), Ospedale di Rovigo; and Sezione di Biologia e Genetica (M.R., N. Chiarelli, M. Colombi), Dipartimento di Medicina Molecolare e Traslazionale, Università degli Studi di Brescia, Italia. ale_pezzini@hotmail.com.
Abstract
OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of consecutive patients with sCeAD and of age- and sex-matched patients with ischemic stroke unrelated to CeAD (non-CeAD IS) by a standard examination protocol including 68 items, and performed extensive molecular investigation for hereditary connective tissue disorders in all patients with sCeAD. RESULTS: The study group included 84 patients with sCeAD (mean age, 44.5 ± 7.8 years; 66.7% men) and 84 patients with non-CeAD IS. None of the patients with sCeAD met clinical or molecular diagnostic criteria for established hereditary connective tissue disorder. Connective tissue abnormalities were detected more frequently in the group of patients with sCeAD than in the group of those with non-CeAD IS (mean number of pathologic findings, 4.5 ± 3.5 vs 1.9 ± 2.3; p < 0.001). Eighty-one patients (96.4%) in the sCeAD group had at least one detectable sign compared with 55 patients (66.7%) in the group with non-CeAD IS (p < 0.001). Skeletal, ocular, and skin abnormalities, as well as craniofacial dysmorphisms, were the clinical signs more strongly associated with sCeAD. Signs suggesting connective tissue abnormality were also more frequently represented in patients with sCeAD than in patients with traumatic CeAD (28.6%, p < 0.001; mean number of pathologic findings, 1.7 ± 3.7, p = 0.045). CONCLUSIONS: Connective tissue abnormalities are frequent in patients with sCeAD. This reinforces the hypothesis that systemic aberrations of the connective tissue might be implicated in the pathogenesis of the disease.
OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of consecutive patients with sCeAD and of age- and sex-matched patients with ischemic stroke unrelated to CeAD (non-CeAD IS) by a standard examination protocol including 68 items, and performed extensive molecular investigation for hereditary connective tissue disorders in all patients with sCeAD. RESULTS: The study group included 84 patients with sCeAD (mean age, 44.5 ± 7.8 years; 66.7% men) and 84 patients with non-CeAD IS. None of the patients with sCeAD met clinical or molecular diagnostic criteria for established hereditary connective tissue disorder. Connective tissue abnormalities were detected more frequently in the group of patients with sCeAD than in the group of those with non-CeAD IS (mean number of pathologic findings, 4.5 ± 3.5 vs 1.9 ± 2.3; p < 0.001). Eighty-one patients (96.4%) in the sCeAD group had at least one detectable sign compared with 55 patients (66.7%) in the group with non-CeAD IS (p < 0.001). Skeletal, ocular, and skin abnormalities, as well as craniofacial dysmorphisms, were the clinical signs more strongly associated with sCeAD. Signs suggesting connective tissue abnormality were also more frequently represented in patients with sCeAD than in patients with traumatic CeAD (28.6%, p < 0.001; mean number of pathologic findings, 1.7 ± 3.7, p = 0.045). CONCLUSIONS: Connective tissue abnormalities are frequent in patients with sCeAD. This reinforces the hypothesis that systemic aberrations of the connective tissue might be implicated in the pathogenesis of the disease.
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