Genetic stroke risk factors

Current Opinion in Neurology

Volumn 10, Issue 1, 1997, Pages 58-63

  Pullicino, Patrick ^a,c   Greenberg, Steven ^a   Trevisan, Maurizio ^b  

^a UNIVERSITY AT BUFFALO   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

^c BUFFALO GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC PROCEDURES; GENETIC RISK; HEREDITY; HUMAN; SHORT SURVEY; STROKE;

EID: 0031003131     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199702000-00012     Document Type: Short Survey

References (72)

1. Kiely DK, Wolf PA, Cupples LA, Beiser AS, Myers RH: Familial aggregation of stroke: the Framlngham study. Stroke 1993, 24:1366-1371.
2. Brass LM, Isaacsohn JL, Merikangas KR, Robinette CD: A study of twins and stroke. Stroke 1992, 23:221-223.
3. Inzitari D, Hachinski VC, Taylor DW, Barnett HJM: Racial differences in the anterior circulation in cerebrovascular disease. Arch Neurol 1990, 47:1080-1084.
4. Natowicz M, Kelley R: Mendelian etiologies of stroke. Ann Neurol 1987, 22:175-192.
5. Perry IJ, Refsum H, Morris RW, Ebrahim SB, Ueland PM, Shaper AG: Prospective study of serum total homocysteine concentration and risk of stroke in middle-aged British men. Lancet 1995, 346:1395-1398. Serum total homocysteine level was higher in 107 men who developed stroke than in 118 control individuals (P=0.004). There was a graded increase in the relative risk of stroke with increasing homocysteine level. The association of homocysteine level and stroke was not attenuated by adjusting for other vascular risk factors. The authors concluded that total homocysteine level is a strong independent risk factor for stroke. Homocysteinuria was until recently known as a rare autosomal recessive condition with markedly elevated homocysteine levels caused by a severe enzyme defect (cystathione-β synthase or methionine synthase). This group's findings raise the possibility that a less severe enzyme defect may be much more frequent and be a risk factor for stroke. Study of the genetic polymorphisms underlying homocysteine metabolism is needed.
6. Schievink WI, Michels W, Mokri B, Piepgras DG, Perry HO: Brief report: a familial syndrome of arterial dissections with lentiginosis. N Engl J Med 1995, 332:576-579. This is a new, apparently rare, syndrome. Patients with arterial dissection or unexplained familial stroke should be screened for multiple small cutaneous pigmented macules.
7. Schievink WI, Michels VV, Piepgras DG: Neurovascular manifestations of heritable connective tissue disorders: a review. Stroke 1994, 25:889-903.
8. Schievink WI, Mokri B, Piepgras DG, Kuiper JD: Recurrent spontaneous arterial dissections - risk in familial versus nonfamilial disease. Stroke 1996, 27:622-624.
9. Schievink WI, Mokri B: Familial aorto-cervicocephalic arterial dissections and congenitally bicuspid aortic valve. Stroke 1995, 26:1935-1940.
10. Pedro-Botet J, Sentí M, Nogués X, Rubiés-Prat J, Roquer J, D'Olhaberriague L, Olivé J: Lipoprotein and apolipoprotein profile in men with ischemic stroke: role of lipoprotein (a), triglyceride-rich lipoproteins, and apolipoprotein E polymorphism. Stroke 1992, 23:1556-1562.
11. Genest JJ Jr, Martin-Munley SS, McNamara JR, Ordovas JM, Jenner J, Myers RH, Silberman SR, Wilson PWF, Salem DN, Schaefer EJ: Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 1992, 85:2025-2033.
12. Dammerman M, Breslow JL: Genetic basis of lipoprotein disorders. Circulation 1995, 91:505-512.
13. Boerwinkle E, Leffert CC, Lin J, Lackner C, Chiesa G, Hobbs HH: Apolipoprotein (a) gene accounts for greater than 90% of the variation in plasma lipoprotein (a) concentrations. J Clin Invest 1992, 90:52-60.
14. Jürgens G, Taddei-Peters WC, Költringer P, Peter W, Chen Q, Greilberger J, Macomber PF, Butman BT, Stead AG, Ransom JH: Lipoprotein (a) serum concentration and apolipoprotein (a) phenotype correlate with severity and presence of ischemic cerebrovascular disease. Stroke 1995, 26:1841-1848. A case-control study of 265 vascular patients and 288 control individuals showing that an elevated Lp(a) level is the best lipid marker for the presence of cerebrovascular disease. The authors found an increased frequency of smaller molecular weight isoforms of apo (a) in patients with carotid atherosclerosis than in patients without, suggesting that there is a genetic predisposition to carotid atherosclerosis.
15. Watts GF, Mazurkiewicz JC, Tonge K, Nelson V, Warburton FG, Slavin BM: Lipoprotein (a) as a determinant of the severity of angiographically defined carotid atherosclerosis. Q J Med 1995, 88:321-326. Elevated serum Lp(a) is a significant determinant of the extent of carotid atherosclerosis and may be useful in identifying patients most at risk of stroke.
16. Shintani S, Kikuchi S, Hamaguchi H, Shiigai T: High serum lipoprotein (a) levels are an independent risk factor for cerebral infarction. Stroke 1993, 24:965-969.
17. Kosunen O, Talasniemi S, Lehtovirta M, Heinonen O, Helisalmi S, Mannermaa A, Paljärvi I, Ryynänen M, Riekkinen PJ Sr, Soininen H: Relation of coronary atherosclerosis and apolipoprotein E genotypes in Alzheimer patients. Stroke 1995, 26:743-748.
18. Kuusisto J, Mykkänen L, Kervinen K, Kesäniemi YA, Laakso M: Apolipoprotein E4 phenotype is not an important risk factor for coronary heart disease or stroke in elderly subjects. Arterioscler Thromb Vasc Biol 1995, 15:1280-1286.
19. Alberts MJ, Graffagnino C, McClenny C, DeLong D, Strittmatter W, Saunders AM, Roses AD: ApoE genotype and survival from intracerebral hemorrhage [Letter]. Lancet 1995, 346:575.
20. Kalaria RN, Premkumar DRD: Apolipoprotein E genotype and cerebral amyloid angiopathy [Letter]. Lancet 1995, 346:1424.
21. Itoh Y, Yamada M, Suematsu N, Matsushita M, Otomo E: Influence of apolipoprotein E genotype on cerebral amyloid angiopathy in the elderly. Stroke 1996, 27:216-218.
22. Couderc R, Mahieux F, Bailleul S, Fenelon G, Mary R, Fermanian J: Prevalence of apolipoprotein E phenotypes in ischemic cerebrovascular disease. A case-control study. Stroke 1993, 24:661-664.
23. Bornebroek M, Haan J, Van Buchem MA, Lanser JBK, De Vries-vd Weerd MACS, Zoeteweij M, Roos RAC: White matter lesions and cognitive deterioration in presymptomatic carriers of the amyloid precursor protein gene codon 693 mutation. Arch Neurol 1996, 53:43-48.
24. Kasturi R, Yatsu FM, Alam R, Rogers S: Restriction fragment length polymorphism of the apoprotein A-I-C-III gene cluster in control and stroke-prone white and black subjects: racial differences. Stroke 1992, 23:1257-1264.
25. Woo J, Lau E, Lam CWK, Kay R, Teoh R, Wong HY, Prall WY, Kreel L, Nicholls MG: Hypertension, lipoprotein (a), and apolipoprotein A-1 as risk factors for stroke in the Chinese. Stroke 1991, 22:203-208.
26. Günel M, Awad IA, Anson J, Lifton RP: Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA 1995, 92:6620-6624. An important study mapping the location of the gene causing cerebral cavernous malformation in two large kindreds.
27. Roos RAC, Haan J, Van Broeckhoven C: Hereditary cerebral hemorrhage with amyloldosis - Dutch type: a congophilic angiopathy. Ann NY Acad Sci 1991, 640:155-160.
28. Schievink WI, Schaid DJ, Rogers HM, Piepgras DG, Michels VV: On the inheritance of intracranial aneurysms. Stroke 1994, 25:2028-2037.
29. Chabriat H, Vashedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, Krebs MO, Julien J, Dubois B, Ducrocq X et al.: Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995, 346:934-939. The largest study of CADASIL patients to date, detailing the clinical presentation, neuroimaging findings and genetic linkage data.
30. Sabbadini G, Francia A, Calandriello L, Di Biasi C, Trasimeni G, Gualdi GF, Palladini G, Manfredi M, Frontali M: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). Clinical, neuroimaging, pathological and genetic study of a large Italian family. Brain 1995, 118:207-215.
31. Skehan SJ, Hutchinson M, MacErlaine DP: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR findings. AJNR 1995, 16:2115-2119.
32. Jung HH, Bassetti C, Tournier-Lasserve E, Vahedi K, Arnaboldi M, Blatter Anfi V, Burgunder J-M: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family. J Neurol Neurosurg Psychiatry 1995, 59:138-143.
33. Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, Sirocchi G, Trojano L, Chabriat H, Salvi F: An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol 1995, 38:231-236.
34. Hutchinson M, O'Riordan J, Javed M, Quin E, Macerlaine D, Willcox T, Parfrey N, Nagey TG, Tournier-Lasserve E: Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol 1995, 38:817-824.
35. Vérin M, Rolland Y, Landgraf F, Chabriat H, Bompais B, Michel A, Vahedi K, Martinet JP, Tournier-Lasserve E, Lemaitre MH, Edan G: New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. J Neurol Neurosurg Psychiatry 1995, 59:579-585.
36. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser M-G: Autosomal dominant leukoencephalopathy and subcortical ischemic stroke: a clinicopathological study. Stroke 1993, 24:122-125.
37. Schröder JM, Sellhaus B, Jörg J: Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Acta Neuropathol (Berl) 1995, 89:116-121.
38. Lechner-Scott J, Engelter S, Steck AJ, Dellas S, Tolnay M, Probst A: A patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) confirmed by sural nerve biopsy. J Neurol Neurosurg Psychiatry 1996, 60:235-236.
39. Ruchoux M-M, Chabriat H, Bousser M-G, Baudrimont M, Tournier-Lasserve E: Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke 1994, 25:2291-2292.
40. Cambien F, Poirier O, Lecerf L, Evans A, Cmabou J-P, Arveilier D, Luc G, Bard J-M, Bara L, Ricard S et al.: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction. Nature 1992, 359:641-644.
41. Arbustini E, Grasso M, Fasani R, Klersy C, Diegoli M, Porcu E, Banchieri N, Fortina P, Danesino C, Specchia G: Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction. Br Heart J 1995, 74:584-591.
42. Schuster H, Wienker TF, Stremmler U, Noll B, Steinmetz A, Luft FC: An anglotensin-converting enzyme gene variant is associated with acute myocardlal infarction in women but not in men. Am J Cardiol 1995, 76:601-603.
43. Kario K, Kanai N, Saito K, Nago N, Matsuo T, Shimada K: Ischemic stroke and the gene for angiotensin-converting enzyme in Japanese hypertensives. Circulation 1996, 93:1630-1633.
44. Markus HS, Barley J, Lunt R, Bland JM, Jeffery S, Carter ND, Brown MM: Angiotensin-converting enzyme gene deletion polymorphism: a new risk factor for lacunar stroke but not carotid atheroma. Stroke 1995, 26:1329-1333.
45. Pullicino P, Lee Kwen P, Greenberg S, Becker AL, Glenister N: Angiotensin-converting enzyme gene and lacunar stroke [Letter]. Stroke 1996, 27:569-570.
46. Catto A, Carter AM, Barrett JH, Srickland M, Bamford J, Davies JA, Grant PJ: Angiotensin-converting enzyme insertion deletion polymorphism and cerebrovascular disease. Stroke 1996, 27:435-440.
47. Schunkert H, Hense H-W, Holmer SR, Stender M, Perz S, Keil U, Lorell BH, Riegger GAJ: Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy. N Engl J Med 1994, 330:1634-1638.
48. Marian AJ, Yu Q-t, Workman R, Greve G, Roberts R: Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet 1993, 342:1085-1086.
49. Raynolds MV, Bristow MR, Bush EW, Abraham WT, Lowes BD, Zisman LS, Taft CS, Perryman MB: Angiotensin-converting enzyme DD genotype in patients with ischaemic or idiopathic dilated cardiomyopathy. Lancet 1993, 342:1073-1075.
50. Hunley TE, Julian BA, Philips JA III, Summar ML, Yoshida H, Horn RG, Brown NJ, Fogo A, Ichikawa I, Kon V: Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy. Kidney Int 1996, 49:571-577.
51. Yoshida H, Mitarai T, Kawamura T, Kitajima T, Miyazaki Y, Nagasawa R, Kawaguchi Y, Kubo H, Ichikawa I, Sakai O: Role of the deletion polymorphism of the angiotensin converting enzyme gene in the progression and therapeutic responsiveness of IgA nephropathy. J Clin Invest 1995, 96:2162-2169.
52. van Essen GG, Rensma PL, de Zeeuw D, Sluiter WJ, Apperloo A, de Jong PE: Association between angiotensin-converting enzynme gene polymorphism and failure of renoprotective therapy. Lancet 1996, 347:94-95.
53. Caulfield M, Lavender P, Farrall P, Munroe P, Lawson M, Turner P, Clark AJL: Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med 1994, 330:1629-1633.
54. Katsuya T, Koike G, Yee TW, Sharpe N, Jackson R, Norton R, Horiuchi M, Pratt RE, Dzau VJ, MacMahon S: Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet 1995, 345:1600-1603.
55. McLaughlin KJ, Jagger C, Small M, Jardine AG: Effect of angiotensinogen gene T235 variant on the development of diabetic complications in type II diabetes mellitus [Letter]. Lancet 1995, 346:1160.
56. Tiret L, Bonnardeaux A, Poirier O, Ricard S, Marques-Vidal P, Evans A, Arveiler D, Luc Q, Kee F, Ducimetiere P et al.: Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction. Lancet 1994, 344:910-913.
57. Chowdhury TA, Dronsfield MJ, Jones AF, Bain SC: Angiotensin II receptor gene polymorphisms and risk of myocardial infarction [Letter]. Lancet 1994, 344:1502-1503.
58. Lindpainter K, Pfeffer MA, Kreutz R, Stampfer MJ, PH, Grodstein F, LaMotte F, Buring J, Hennekens CH: A prospective evaluation of an angiotensin-converting-enzyme gene poymorphism and the risk of ischemic heart disease. N Engl J Med 1995, 332:706-711.
59. Köller H, Stoll G, Sitzer M, Burk M, Schöttler B, Freund H-J: Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. Neurology 1994, 44:1238-1240.
60. Svensson PJ, Dahlback B: Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994, 330:517-522.
61. Simioni P, de Ronde H, Prandoni P, Saladini M, Bertina RM, Girolami A: Ischemic stroke in young patients with activated protein C resistance: a report of three cases belonging to three different kindreds. Stroke 1995, 26:885-890. A report of three cases with marked resistance to activated protein C with stroke suggesting a possible link.
62. Press RD, Liu XY, Beamer N, Coull BM. Ischemic stroke in the elderly - role of the common factor V mutation causing resistance to activated protein C. Stroke 1996, 27:44-48.
63. Kontula K, Ylikorkala A, Miettinen H, Vuorio A, Kauppinen-Makelin R, Hamalainen L, Palomaki H, Kaste M: Arg506Gln factor V mutation (factor V Leiden) in patients with ischaemic cerebrovascular disease and survivors of myocardial infarction. Thromb Haemost 1995, 73:558-560.
64. Mandel H, Brenner B, Berant M, Rosenberg N, Lanir N, Jakobs C, Fowler B, Seligsohn U: Coexistence of hereditary homocysteinemia and factor V Leiden-effect on thrombosis. N Engl J Med 1996, 334:763-768.
65. Pettee AD, Wasserman BA, Adams NL, McMullen W, Smith HR, Woods SL, Ratnoff OD: Familial Sneddon's syndrome: clinical, hematologic and radiographic findings in two brothers. Neurology 1994, 44:399-405.
66. Korte W, Otremba H, Lutz S, Flury R, Schmid L, Weissert M: Childhood stroke at three years of age with transient protein C deficiency, familial antiphospholipid antibodies and F. XII deficiency - a family study. Neuropediatrics 1994, 25:290-294.
67. An G, Lin T-N, Liu J-S, Xue J-J, He Y-Y, Hsu CY: Expression of c-fos and c-Jun family genes after focal cerebral ischemia. Ann Neurol 1996, 33:457-464.
68. Liu PK, Salminen A, He YY, Jiang MH, Xue JJ, Liu JS, Hsu CY: Suppression of ischaemia-induced Fos expression and AP-1 activity by an antisense oligodeoxynucleotide to c-fos mRNA. Ann Neurol 1994, 36:566-576.
69. Wahlestedt C, Golanov E, Yamamoto S, Yee F, Ericson H, Yoo H, Inturrisi CE, Reis DJ: Antisense oligonucleotides to NMDA-1 receptor channel protect cortical neurons form excitotxicity and reduce focal ischemic infarctions. Nature 1993, 363:260-263.
70. Eriksson P, Kallin B, Van't Hooft FM, Båvenholm P, Hamsten A: Allelespecific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc Natl Acad Sci USA 1995, 92:1851-1855.
71. Ye S, Watts GF, Mandalia S, Humphries SE, Henney AM: Preliminary report: genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis. Br Heart J 1995, 73:209-215.
72. Weiss EJ, Bray PF, Tayback M, Schulman SP, Kickler TS, Becker LC, Weiss JL, Gerstenblith G, Goldschmidt-Clermont PJ: A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N Engl J Med 1996, 334:1090-1094.