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Article Dans Une Revue Neurology Année : 2014

Familial occurrence and heritable connective tissue disorders in cervical artery dissection.

Barbara Goeggel Simonetti
  • Fonction : Auteur
Manja Kloss
  • Fonction : Auteur
Hakan Sarikaya
  • Fonction : Auteur
Stefan Engelter
  • Fonction : Auteur
Tiina M Metso
  • Fonction : Auteur
Alessandro Pezzini
  • Fonction : Auteur
Vincent Thijs
  • Fonction : Auteur
Emmanuel Touzé
  • Fonction : Auteur
Paolo Costa
  • Fonction : Auteur
Maria Sessa
  • Fonction : Auteur
Ayse Altintas
  • Fonction : Auteur
Antti J Metso
  • Fonction : Auteur
Dominique Hervé
  • Fonction : Auteur
Christoph Lichy
  • Fonction : Auteur
Urs Fischer
Hugues Chabriat
  • Fonction : Auteur
Valeria Caso
  • Fonction : Auteur
Philippe A Lyrer
  • Fonction : Auteur
Turgut Tatlisumak
  • Fonction : Auteur
Tobias Brandt
  • Fonction : Auteur
Elisabeth Tournier-Lasserve
  • Fonction : Auteur
Ralf W Baumgartner
  • Fonction : Auteur
Caspar Grond-Ginsbach
  • Fonction : Auteur
Didier Leys
  • Fonction : Auteur
Anna Bersano
  • Fonction : Auteur

Résumé

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. 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. 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. 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.

Dates et versions

hal-01253338 , version 1 (09-01-2016)

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Citer

Stéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, Juan José Martin, Manja Kloss, et al.. Familial occurrence and heritable connective tissue disorders in cervical artery dissection.. Neurology, 2014, 83 (22), pp.2023-2031. ⟨10.1212/WNL.0000000000001027⟩. ⟨hal-01253338⟩
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