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Stroke Genetics pp 207–221Cite as

Genetics of Cervical Artery Dissection

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Abstract

Despite being relatively rare in the general population, cervical artery dissection (CEAD) is a major cause of ischemic stroke in young and middle-aged adults. Its risk factors and underlying mechanisms are poorly understood. Seldom, CEAD can be caused by a monogenic connective tissue disease, mainly vascular Ehlers-Danlos syndrome. In the absence of a known monogenic connective tissue disorder, a small proportion of CEAD patients (<3%) have a family history of symptomatic CEAD, and in some series, about half of CEAD patients were shown to have skin connective tissue abnormalities segregating in families according to an autosomal dominant pattern. A few linkage studies were performed that have so far yielded negative results. In the majority of CEAD cases, a number of arguments suggest that genetic factors might play a role as part of a multifactorial predisposition. Seventeen genetic association studies have been published, which tested the association of various candidate genes with CEAD. Most of these studies were negative. Two studies reported associations with polymorphisms in the ICAM1 and COL3A1 genes, but neither has been replicated. Three studies reported an association with the MTHFR 677TT genotype, but four others did not replicate this. A meta-analysis suggested an overall weak association of the MTHFR 677TT genotype with CEAD. Genetic association studies so far have been limited by small sample size, due to the low incidence of the disease, and by the use of a candidate gene approach, with limited exploration of genetic variation in a small number of genes that were chosen based on a priori hypotheses. International efforts have recently been made to gather much larger samples through multicenter recruitment, and a genome-wide association study is currently under way, which aims at identifying novel genetic variants associated with CEAD, using an unbiased approach.

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Notes

  1. 1.

    www.cadisp.org

  2. 2.

    http://www.genome.gov/26525384

References

  1. Leys D, Bandu L, Henon H, Lucas C, Mounier-Vehier F, Rondepierre P, et al. Clinical outcome in 287 consecutive young adults (15 to 45 years) with ischemic stroke. Neurology. 2002;59(1):26–33.

    Article  PubMed  CAS  Google Scholar 

  2. Touze E, Gauvrit JY, Moulin T, Meder JF, Bracard S, Mas JL. Risk of stroke and recurrent dissection after a cervical artery dissection: a multicenter study. Neurology. 2003;61(10):1347–51.

    Article  PubMed  CAS  Google Scholar 

  3. Lee VH, Brown Jr RD, Mandrekar JN, Mokri B. Incidence and outcome of cervical artery dissection: a population-based study. Neurology. 2006;67(10):1809–12.

    Article  PubMed  Google Scholar 

  4. Biffl WL, Ray Jr CE, Moore EE, Franciose RJ, Aly S, Heyrosa MG, et al. Treatment-related outcomes from blunt cerebrovascular injuries: importance of routine follow-up arteriography. Ann Surg. 2002;235(5):699–706; discussion 706–7.

    Article  PubMed  Google Scholar 

  5. Dittrich R, Rohsbach D, Heidbreder A, Heuschmann P, Nassenstein I, Bachmann R, et al. Mild mechanical traumas are possible risk factors for cervical artery dissection. Cerebrovasc Dis. 2007;23(4):275–81.

    Article  PubMed  CAS  Google Scholar 

  6. Haldeman S, Kohlbeck FJ, McGregor M. Risk factors and precipitating neck movements causing vertebrobasilar artery dissection after cervical trauma and spinal manipulation. Spine. 1999;24(8):785–94.

    Article  PubMed  CAS  Google Scholar 

  7. Debette S, Metso T, Pezzini A, Abboud S, Metso A, Leys D, et al. Association of vascular risk factors with cervical artery dissection and ischemic stroke in young adults. Circulation. 2011;123(14):1537–44.

    Article  PubMed  CAS  Google Scholar 

  8. Pezzini A, Caso V, Zanferrari C, Del Zotto E, Paciaroni M, Bertolino C, et al. Arterial hypertension as risk factor for spontaneous cervical artery dissection. A case-control study. J Neurol Neurosurg Psychiatry. 2006;77(1):95–7.

    Article  PubMed  CAS  Google Scholar 

  9. Arnold M, Pannier B, Chabriat H, Nedeltchev K, Stapf C, Buffon F, et al. Vascular risk factors and morphometric data in cervical artery dissection: a case-control study. J Neurol Neurosurg Psychiatry. 2009;80(2):232–4.

    Article  PubMed  CAS  Google Scholar 

  10. Grau AJ, Buggle F, Ziegler C, Schwarz W, Meuser J, Tasman AJ, et al. Association between acute cerebrovascular ischemia and chronic and recurrent infection. Stroke. 1997;28(9):1724–9.

    Article  PubMed  CAS  Google Scholar 

  11. Gallai V, Caso V, Paciaroni M, Cardaioli G, Arning E, Bottiglieri T, et al. Mild hyperhomocyst(e)inemia: a possible risk factor for cervical artery dissection. Stroke. 2001;32(3):714–8.

    Article  PubMed  CAS  Google Scholar 

  12. Pezzini A, Del Zotto E, Archetti S, Negrini R, Bani P, Albertini A, et al. Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke. Stroke. 2002;33(3):664–9.

    Article  PubMed  CAS  Google Scholar 

  13. Arauz A, Hoyos L, Cantu C, Jara A, Martinez L, Garcia I, et al. Mild hyperhomocysteinemia and low folate concentrations as risk factors for cervical arterial dissection. Cerebrovasc Dis. 2007;24(2–3):210–4.

    Article  PubMed  CAS  Google Scholar 

  14. Tzourio C, Benslamia L, Guillon B, Aidi S, Bertrand M, Berthet K, et al. Migraine and the risk of cervical artery dissection: a case-control study. Neurology. 2002;59(3):435–7.

    Article  PubMed  CAS  Google Scholar 

  15. de Bray JM, Marc G, Pautot V, Vielle B, Pasco A, Lhoste P, et al. Fibromuscular dysplasia may herald symptomatic recurrence of cervical artery dissection. Cerebrovasc Dis. 2007;23(5–6):448–52.

    Article  PubMed  Google Scholar 

  16. Rubinstein SM, Peerdeman SM, van Tulder MW, Riphagen I, Haldeman S. A systematic review of the risk factors for cervical artery dissection. Stroke. 2005;36(7):1575–80.

    Article  PubMed  Google Scholar 

  17. Debette S, Markus HS. The genetics of cervical artery dissection: a systematic review. Stroke. 2009;40(6):e459–66.

    Article  PubMed  CAS  Google Scholar 

  18. Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32.

    Article  PubMed  Google Scholar 

  19. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342(10):673–80.

    Article  PubMed  CAS  Google Scholar 

  20. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998;77(1):31–7.

    Article  PubMed  CAS  Google Scholar 

  21. Arnold M, Bousser MG, Fahrni G, Fischer U, Georgiadis D, Gandjour J, et al. Vertebral artery dissection: presenting findings and predictors of outcome. Stroke. 2006;37(10):2499–503.

    Article  PubMed  Google Scholar 

  22. Leys D, Moulin T, Stojkovic T, Begey S, Chavot D, Donald_Investigators. Follow-up of patients with history of cervical artery dissection. Cerebrovasc Dis. 1995;5:43–9.

    Article  Google Scholar 

  23. Schievink WI, Mokri B, O’Fallon WM. Recurrent spontaneous cervical-artery dissection. N Engl J Med. 1994;330(6):393–7.

    Article  PubMed  CAS  Google Scholar 

  24. Beletsky V, Nadareishvili Z, Lynch J, Shuaib A, Woolfenden A, Norris JW. Cervical arterial dissection: time for a therapeutic trial? Stroke. 2003;34(12):2856–60.

    Article  PubMed  Google Scholar 

  25. von Pein F, Valkkila M, Schwarz R, Morcher M, Klima B, Grau A, et al. Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections. J Neurol. 2002;249(7):862–6.

    Article  Google Scholar 

  26. Kuivaniemi H, Prockop DJ, Wu Y, Madhatheri SL, Kleinert C, Earley JJ, et al. Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients. Neurology. 1993;43(12):2652–8.

    Article  PubMed  CAS  Google Scholar 

  27. van den Berg JS, Limburg M, Kappelle LJ, Pals G, Arwert F, Westerveld A. The role of type III collagen in spontaneous cervical arterial dissections. Ann Neurol. 1998;43(4):494–8.

    Article  PubMed  Google Scholar 

  28. Martin JJ, Hausser I, Lyrer P, Busse O, Schwarz R, Schneider R, et al. Familial cervical artery dissections: clinical, morphologic, and genetic studies. Stroke. 2006;37(12):2924–9.

    Article  PubMed  Google Scholar 

  29. North KN, Whiteman DA, Pepin MG, Byers PH. Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Ann Neurol. 1995;38(6):960–4.

    Article  PubMed  CAS  Google Scholar 

  30. Debette S, Leys D. Cervical-artery dissections: predisposing factors, diagnosis, and outcome. Lancet Neurol. 2009;8(7):668–78.

    Article  PubMed  Google Scholar 

  31. Engelter ST, Brandt T, Debette S, Caso V, Lichy C, Pezzini A, et al. Antiplatelets versus anticoagulation in cervical artery dissection. Stroke. 2007;38(9):2605–11.

    Article  PubMed  Google Scholar 

  32. Schievink WI, Limburg M, Oorthuys JW, Fleury P, Pope FM. Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke. 1990;21(4):626–32.

    Article  PubMed  CAS  Google Scholar 

  33. Ong KT, Perdu J, De Backer J, Bozec E, Collignon P, Emmerich J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet. 2010;376(9751):1476–84.

    Article  PubMed  CAS  Google Scholar 

  34. Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, et al. Life expectancy in British Marfan syndrome populations. Clin Genet. 1998;54(2):124–8.

    Article  PubMed  CAS  Google Scholar 

  35. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85.

    Article  PubMed  CAS  Google Scholar 

  36. Wityk RJ, Zanferrari C, Oppenheimer S. Neurovascular complications of Marfan syndrome: a retrospective, hospital-based study. Stroke. 2002;33(3):680–4.

    Article  PubMed  Google Scholar 

  37. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet. 2007;81(3):454–66.

    Article  PubMed  CAS  Google Scholar 

  38. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788–98.

    Article  PubMed  CAS  Google Scholar 

  39. Loeys BL, Dietz HC. Loeys-Dietz syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [internet]. Seattle (WA): University of Washington; 1993–2008.

    Google Scholar 

  40. Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010;25(6):546–51.

    Article  PubMed  Google Scholar 

  41. Pezzini A, Drera B, Del Zotto E, Ritelli M, Carletti M, Tomelleri G, et al. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection. J Neurol Neurosurg Psychiatry. 2011;82:1372–4.

    Article  PubMed  Google Scholar 

  42. Schievink WI, Prakash UB, Piepgras DG, Mokri B. Alpha 1-antitrypsin deficiency in intracranial aneurysms and cervical artery dissection. Lancet. 1994;343(8895):452–3.

    Article  PubMed  CAS  Google Scholar 

  43. Dittrich R, Heidbreder A, Rohsbach D, Schmalhorst J, Nassenstein I, Maintz D, et al. Connective tissue and vascular phenotype in patients with cervical artery dissection. Neurology. 2007;68(24):2120–4.

    Article  PubMed  CAS  Google Scholar 

  44. Gallerini S, Morelli N, Chiti A, Baldacci F, Sonnoli C, Orlandi G, et al. Spontaneous bilateral carotid artery dissection and hereditary haemochromatosis: what relationship? Neurol Sci. 2006;27(4):291–2.

    Article  PubMed  CAS  Google Scholar 

  45. Veltkamp R, Veltkamp C, Hartmann M, Schonffeldt-Varas P, Schwaninger M. Symptomatic dissection of the internal carotid artery. A rare manifestation of autosome dominant polycystic kidney disease? Nervenarzt. 2004;75(2):149–52.

    Article  PubMed  CAS  Google Scholar 

  46. Bobrie G, Brunet-Bourgin F, Alamowitch S, Coville P, Kassiotis P, Kermarrec A, et al. Spontaneous artery dissection: is it part of the spectrum of autosomal dominant polycystic kidney disease? Nephrol Dial Transplant. 1998;13(8):2138–41.

    Article  PubMed  CAS  Google Scholar 

  47. Padberg M, Rinkel GJ, Hene RJ, Rabelink TJ. A winking warning. Nephrol Dial Transplant. 1998;13(12):3263–4.

    Article  PubMed  CAS  Google Scholar 

  48. Pezzini A, Magoni M, Corda L, Pini L, Medicina D, Crispino M, et al. Alpha-1-antitrypsin deficiency-associated cervical artery dissection: report of three cases. Eur Neurol. 2002;47(4):201–4.

    Article  PubMed  CAS  Google Scholar 

  49. Plaschke M, Auer D, Trapp T, Trenkwalder P, Trenkwalder C. Severe spontaneous carotid artery dissection and multiple aneurysmal dilatations. A case report. Angiology. 1996;47(9):919–23.

    Article  PubMed  CAS  Google Scholar 

  50. Konrad C, Nabavi DG, Junker R, Dziewas R, Henningsen H, Stogbauer F. Spontaneous internal carotid artery dissection and alpha-1-antitrypsin deficiency. Acta Neurol Scand. 2003;107(3):233–6.

    Article  PubMed  CAS  Google Scholar 

  51. Fuentes K, Silveira DC, Papamitsakis NI. Spontaneous carotid artery dissection in a patient with Turner syndrome. Cerebrovasc Dis. 2007;24(6):543–4.

    Article  PubMed  Google Scholar 

  52. Muscat P, Lidov M, Nahar T, Tuhrim S, Weinberger J. Vertebral artery dissection in Turner’s syndrome: diagnosis by magnetic resonance imaging. J Neuroimaging. 2001;11(1):50–4.

    Article  PubMed  CAS  Google Scholar 

  53. Vanacker P, Thijs V. Spontaneous cervical artery dissection in adult Williams syndrome. Cerebrovasc Dis. 2009;27(3):309–10.

    Article  PubMed  Google Scholar 

  54. Morcher M, Hausser I, Brandt T, Grond-Ginsbach C. Heterozygous carriers of pseudoxanthoma elasticum were not found among patients with cervical artery dissections. J Neurol. 2003;250(8):983–6.

    Article  PubMed  CAS  Google Scholar 

  55. Grond-Ginsbach C, Wigger F, Morcher M, von Pein F, Grau A, Hausser I, et al. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. Neurology. 2002;58(7):1103–5.

    Article  PubMed  CAS  Google Scholar 

  56. Grond-Ginsbach C, Weber R, Haas J, Orberk E, Kunz S, Busse O, et al. Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections. Stroke. 1999;30(9):1887–90.

    Article  PubMed  CAS  Google Scholar 

  57. Kuhlenbaumer G, Muller US, Besselmann M, Rauterberg J, Robenek H, Hunermund G, et al. Neither collagen 8A1 nor 8A2 mutations play a major role in cervical artery dissection. A mutation analysis and linkage study. J Neurol. 2004;251(3):357–9.

    Article  PubMed  Google Scholar 

  58. Grond-Ginsbach C, Thomas-Feles C, Werner I, Weber R, Wigger F, Hausser I, et al. Mutations in the tropoelastin gene (ELN) were not found in patients with spontaneous cervical artery dissections. Stroke. 2000;31(8):1935–8.

    Article  PubMed  CAS  Google Scholar 

  59. Schievink WI, Mokri B, Piepgras DG, Kuiper JD. Recurrent spontaneous arterial dissections: risk in familial versus nonfamilial disease. Stroke. 1996;27(4):622–4.

    Article  PubMed  CAS  Google Scholar 

  60. Baumgartner RW, Arnold M, Baumgartner I, Mosso M, Gonner F, Studer A, et al. Carotid dissection with and without ischemic events: local symptoms and cerebral artery findings. Neurology. 2001;57(5):827–32.

    Article  PubMed  CAS  Google Scholar 

  61. Grond-Ginsbach C, Debette S. The association of connective tissue disorders with cervical artery dissections. Curr Mol Med. 2009;9(2):210–4.

    Article  PubMed  CAS  Google Scholar 

  62. Calvet D, Boutouyrie P, Touze E, Laloux B, Mas JL, Laurent S. Increased stiffness of the carotid wall material in patients with spontaneous cervical artery dissection. Stroke. 2004;35(9):2078–82.

    Article  PubMed  Google Scholar 

  63. Lucas C, Lecroart JL, Gautier C, Leclerc X, Dauzat M, Leys D, et al. Impairment of endothelial function in patients with spontaneous cervical artery dissection: evidence for a general arterial wall disease. Cerebrovasc Dis. 2004;17(2–3):170–4.

    Article  PubMed  CAS  Google Scholar 

  64. Tzourio C, Cohen A, Lamisse N, Biousse V, Bousser MG. Aortic root dilatation in patients with spontaneous cervical artery dissection. Circulation. 1997;95(10):2351–3.

    Article  PubMed  CAS  Google Scholar 

  65. Volker W, Dittrich R, Grewe S, Nassenstein I, Csiba L, Herczeg L, et al. The outer arterial wall layers are primarily affected in spontaneous cervical artery dissection. Neurology. 2011;76(17):1463–71.

    Article  PubMed  CAS  Google Scholar 

  66. Brandt T, Hausser I, Orberk E, Grau A, Hartschuh W, Anton-Lamprecht I, et al. Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections. Ann Neurol. 1998;44(2):281–5.

    Article  PubMed  CAS  Google Scholar 

  67. Wiest T, Hyrenbach S, Bambul P, Erker B, Pezzini A, Hausser I, et al. Genetic analysis of familial connective tissue alterations associated with cervical artery dissections suggests locus heterogeneity. Stroke. 2006;37(7):1697–702.

    Article  PubMed  Google Scholar 

  68. Brandt T, Orberk E, Weber R, Werner I, Busse O, Muller BT, et al. Pathogenesis of cervical artery dissections: association with connective tissue abnormalities. Neurology. 2001;57(1):24–30.

    Article  PubMed  CAS  Google Scholar 

  69. Ulbricht D, Diederich NJ, Hermanns-Le T, Metz RJ, Macian F, Pierard GE. Cervical artery dissection: an atypical presentation with Ehlers-Danlos-like collagen pathology? Neurology. 2004;63(9):1708–10.

    Article  PubMed  CAS  Google Scholar 

  70. Grond-Ginsbach C, Klima B, Weber R, Striegel J, Fischer C, Hacke W, et al. Exclusion mapping of the genetic predisposition for cervical artery dissections by linkage analysis. Ann Neurol. 2002;52(3):359–64.

    Article  PubMed  CAS  Google Scholar 

  71. Konrad C, Muller GA, Langer C, Kuhlenbaumer G, Berger K, Nabavi DG, et al. Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. J Neurol. 2004;251(10):1242–8.

    Article  PubMed  CAS  Google Scholar 

  72. Kloss M, Wiest T, Hyrenbach S, Werner I, Arnold ML, Lichy C, et al. MTHFR 677TT genotype increases the risk for cervical artery dissections. J Neurol Neurosurg Psychiatry. 2006;77(8):951–2.

    Article  PubMed  CAS  Google Scholar 

  73. Jara-Prado A, Alonso ME, Martinez Ruano L, Guerrero Camacho J, Leyva A, Lopez M, et al. MTHFR C677T, FII G20210A, FV Leiden G1691A, NOS3 intron 4 VNTR, and APOE epsilon4 gene polymorphisms are not associated with spontaneous cervical artery dissection. Int J Stroke. 2010;5(2):80–5.

    Article  PubMed  CAS  Google Scholar 

  74. Pezzini A, Grassi M, Del Zotto E, Giossi A, Monastero R, Dalla Volta G, et al. Migraine mediates the influence of C677T MTHFR genotypes on ischemic stroke risk with a stroke-subtype effect. Stroke. 2007;38(12):3145–51.

    Article  PubMed  CAS  Google Scholar 

  75. Longoni M, Grond-Ginsbach C, Grau AJ, Genius J, Debette S, Schwaninger M, et al. The ICAM-1 E469K gene polymorphism is a risk factor for spontaneous cervical artery dissection. Neurology. 2006;66(8):1273–5.

    Article  PubMed  CAS  Google Scholar 

  76. Kuhlenbaumer G, Konrad C, Kramer S, Kis B, Nabavi D, Dittrich R, et al. The collagen 1A2 polymorphism rs42524, which is associated with intracranial aneurysms, shows no association with spontaneous cervical artery dissection (sCAD). J Neurol Neurosurg Psychiatry. 2006;77(1):124–5.

    Article  PubMed  CAS  Google Scholar 

  77. Grond-Ginsbach C, Engelter S, Werner I, Hausser I, Muller US, Brandt T, et al. Alpha-1-antitrypsin deficiency alleles are not associated with cervical artery dissections. Neurology. 2004;62(7):1190–2.

    Article  PubMed  CAS  Google Scholar 

  78. Konrad C, Langer C, Muller GA, Berger K, Dziewas R, Stogbauer F, et al. Protease inhibitors in spontaneous cervical artery dissections. Stroke. 2005;36(1):9–13.

    Article  PubMed  CAS  Google Scholar 

  79. Wiest T, Werner I, Brandt T, Grond-Ginsbach C. Interleukin-6 promoter variants in patients with spontaneous cervical artery dissections. Cerebrovasc Dis. 2004;17(4):347–8.

    Article  PubMed  Google Scholar 

  80. Buss A, Pech K, Roelver S, Bloemeke B, Klotzsch C, Breuer S. Functional polymorphisms in matrix metalloproteinases −1, −3, −9 and −12 in relation to cervical artery dissection. BMC Neurol. 2009;9:40.

    Article  PubMed  Google Scholar 

  81. Wagner S, Kluge B, Koziol JA, Grau AJ, Grond-Ginsbach C. MMP-9 polymorphisms are not associated with spontaneous cervical artery dissection. Stroke. 2004;35(3):e62–4.

    Article  PubMed  CAS  Google Scholar 

  82. Hyrenbach S, Pezzini A, del Zotto E, Giossi A, Lichy C, Kloss M, et al. No association of the −105 promoter polymorphism of the selenoprotein S encoding gene SEPS1 with cerebrovascular disease. Eur J Neurol. 2007;14(10):1173–5.

    Article  PubMed  CAS  Google Scholar 

  83. Kuhlenbaumer G, Friedrichs F, Kis B, Berlit P, Maintz D, Nassenstein I, et al. Association between single nucleotide polymorphisms in the lysyl oxidase-like 1 gene and spontaneous cervical artery dissection. Cerebrovasc Dis. 2007;24(4):343–8.

    Article  PubMed  CAS  Google Scholar 

  84. Dichgans M, Markus HS. Genetic association studies in stroke: methodological issues and proposed standard criteria. Stroke. 2005;36(9):2027–31.

    Article  PubMed  Google Scholar 

  85. Debette S, Metso TM, Pezzini A, Engelter ST, Leys D, Lyrer P, et al. CADISP-genetics: an international project searching for genetic risk factors of cervical artery dissections. Int J Stroke. 2009;4(3):224–30.

    Article  PubMed  CAS  Google Scholar 

  86. Zondervan KT, Cardon LR. Designing candidate gene and genome-wide case-control association studies. Nat Protoc. 2007;2(10):2492–501.

    Article  PubMed  CAS  Google Scholar 

  87. Arauz A, Hoyos L, Espinoza C, Cantu C, Barinagarrementeria F, Roman G. Dissection of cervical arteries: long-term follow-up study of 130 consecutive cases. Cerebrovasc Dis. 2006;22(2–3):150–4.

    Article  PubMed  Google Scholar 

  88. Debette S, Grond-Ginsbach C, Bodenant M, Kloss M, Engelter ST, Metso T, et al. For the Cervical Artery Dissection Ischemic Stroke Patients (CADISP) Group Differential features of carotid and vertebral artery dissections: The CADISP Study Neurology. 2011;77:1174–1181.

    Google Scholar 

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Authors and Affiliations

  1. Department of Neuroepidemiology, Inserm U708, Salpêtrière Hospital, 47 boulevard de l’Hôpital, Paris Cedex 13, 75651, France

    Stéphanie Debette M.D., Ph.D.

  2. Department of Epidemiology, University of Versailles Saint-Quentin en Yvelines, Raymond Poincarè Hospital, Garches, France

    Stéphanie Debette M.D., Ph.D.

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Correspondence to Stéphanie Debette M.D., Ph.D. .

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  1. Imperial College London & Hammersmith Ho, Fulham Palace Road, London, W6 8RF, United Kingdom

    Pankaj Sharma

  2. , Mayo Clinic Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, 32224, Florida, USA

    James F Meschia

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Debette, S. (2013). Genetics of Cervical Artery Dissection. In: Sharma, P., Meschia, J. (eds) Stroke Genetics. Springer, London. https://doi.org/10.1007/978-0-85729-209-4_13

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