title: Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Authors' affiliations are listed at the end of the article. stephanie.debette@lrb.aphp.fr marcel.arnold@insel.ch.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Debette
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Barbara
authors.initials: B
authors.lastname: Goeggel Simonetti
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Schilling
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Martin
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Manja
authors.initials: M
authors.lastname: Kloss
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Hakan
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authors.lastname: Sarikaya
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Hausser
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authors.forename: Stefan
authors.initials: S
authors.lastname: Engelter
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Tiina M
authors.initials: TM
authors.lastname: Metso
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pezzini
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Vincent
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authors.lastname: Thijs
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Touzé
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Stefano
authors.initials: S
authors.lastname: Paolucci
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Paolo
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authors.lastname: Costa
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Maria
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authors.lastname: Sessa
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authors.forename: Yves
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authors.lastname: Samson
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authors.forename: Yannick
authors.initials: Y
authors.lastname: Béjot
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Ayse
authors.initials: A
authors.lastname: Altintas
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Antti J
authors.initials: AJ
authors.lastname: Metso
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Dominique
authors.initials: D
authors.lastname: Hervé
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Christoph
authors.initials: C
authors.lastname: Lichy
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Simon
authors.initials: S
authors.lastname: Jung
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Urs
authors.initials: U
authors.lastname: Fischer
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Chantal
authors.initials: C
authors.lastname: Lamy
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Armin
authors.initials: A
authors.lastname: Grau
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Hugues
authors.initials: H
authors.lastname: Chabriat
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Valeria
authors.initials: V
authors.lastname: Caso
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Philippe A
authors.initials: PA
authors.lastname: Lyrer
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Christian
authors.initials: C
authors.lastname: Stapf
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Turgut
authors.initials: T
authors.lastname: Tatlisumak
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Tobias
authors.initials: T
authors.lastname: Brandt
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Dominique P
authors.initials: DP
authors.lastname: Germain
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Michael
authors.initials: M
authors.lastname: Frank
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Ralf W
authors.initials: RW
authors.lastname: Baumgartner
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Caspar
authors.initials: C
authors.lastname: Grond-Ginsbach
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Marie-Germaine
authors.initials: MG
authors.lastname: Bousser
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Didier
authors.initials: D
authors.lastname: Leys
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Jean
authors.initials: J
authors.lastname: Dallongeville
authors.affiliation: Authors' affiliations are listed at the end of the article.
authors.forename: Anna
authors.initials: A
authors.lastname: Bersano
authors.affiliation: Authors' affiliations are listed at the end of the article. stephanie.debette@lrb.aphp.fr marcel.arnold@insel.ch.
authors.forename: Marcel
authors.initials: M
authors.lastname: Arnold
mesh_terms: D000328:Adult; D015331:Cohort Studies; D003240:Connective Tissue Diseases / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D038622:Internationality; D008297:Male; D008875:Middle Aged; D020217:Vertebral Artery Dissection / Q000175:diagnosis* / Q000235:genetics*