TY - JOUR
T1 - Familial occurrence and heritable connective tissue disorders in cervical artery dissection
AU - Debette, Stéphanie
AU - Simonetti, Barbara Goeggel
AU - Schilling, Sabrina
AU - Martin, Juan José
AU - Kloss, Manja
AU - Sarikaya, Hakan
AU - Hausser, Ingrid
AU - Engelter, Stefan
AU - Metso, Tiina M.
AU - Pezzini, Alessandro
AU - Thijs, Vincent
AU - Touzé, Emmanuel
AU - Paolucci, Stefano
AU - Costa, Paolo
AU - Sessa, Maria
AU - Samson, Yves
AU - Béjot, Yannick
AU - Altintas, Ayse
AU - Metso, Antti J.
AU - Hervé, Dominique
AU - Lichy, Christoph
AU - Jung, Simon
AU - Fischer, Urs
AU - Lamy, Chantal
AU - Grau, Armin
AU - Chabriat, Hugues
AU - Caso, Valeria
AU - Lyrer, Philippe A.
AU - Stapf, Christian
AU - Tatlisumak, Turgut
AU - Brandt, Tobias
AU - Tournier-Lasserve, Elisabeth
AU - Germain, Dominique P.
AU - Frank, Michael
AU - Baumgartner, Ralf W.
AU - Grond-Ginsbach, Caspar
AU - Bousser, Marie Germaine
AU - Leys, Didier
AU - Dallongeville, Jean
AU - Bersano, Anna
AU - Arnold, Marcel
PY - 2014/11/1
Y1 - 2014/11/1
N2 - Objective: In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders. Methods: We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departments participating in the CADISP-plus consortium, following a standardized protocol. Frequency of reported family history of CeAD and of inherited connective tissue disorders was assessed. Putative risk factors, baseline features, and 3-month outcome were compared between groups. Results: Among 1,934 consecutive patients with CeAD, 20 patients (1.0%, 95% confidence interval: 0.6%-1.5%) from 17 families (0.9%, 0.5%-1.3%) had a family history of CeAD. Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagnosis was suspected in 2 additional patients, but COL3A1 sequencing was negative. Two patients were diagnosed with classic and hypermobile Ehlers-Danlos syndrome, one patient with Marfan syndrome, and one with osteogenesis imperfecta, based on clinical criteria only. Conclusion: In this largest series of patients with CeAD to date, family history of symptomatic CeAD was rare and inherited connective tissue disorders seemed exceptional. This finding supports the notion that CeAD is a multifactorial disease in the vast majority of cases.
AB - Objective: In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders. Methods: We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departments participating in the CADISP-plus consortium, following a standardized protocol. Frequency of reported family history of CeAD and of inherited connective tissue disorders was assessed. Putative risk factors, baseline features, and 3-month outcome were compared between groups. Results: Among 1,934 consecutive patients with CeAD, 20 patients (1.0%, 95% confidence interval: 0.6%-1.5%) from 17 families (0.9%, 0.5%-1.3%) had a family history of CeAD. Family history of CeAD was significantly more frequent in patients with carotid location of the dissection and elevated cholesterol levels. Two patients without a family history of CeAD had vascular Ehlers-Danlos syndrome with a mutation in COL3A1. This diagnosis was suspected in 2 additional patients, but COL3A1 sequencing was negative. Two patients were diagnosed with classic and hypermobile Ehlers-Danlos syndrome, one patient with Marfan syndrome, and one with osteogenesis imperfecta, based on clinical criteria only. Conclusion: In this largest series of patients with CeAD to date, family history of symptomatic CeAD was rare and inherited connective tissue disorders seemed exceptional. This finding supports the notion that CeAD is a multifactorial disease in the vast majority of cases.
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U2 - 10.1212/WNL.0000000000001027
DO - 10.1212/WNL.0000000000001027
M3 - Article
C2 - 25355833
AN - SCOPUS:84961288150
VL - 83
SP - 2023
EP - 2031
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 22
ER -