Skip to main content

Clinicogenetic and Pathologic Characteristics of CADASIL

  • Chapter
  • First Online:
Book cover Stroke Genetics

Abstract

CADASIL is the most common inherited monogenic disorder causing stroke. It is becoming increasingly recognized across many ancestral groups. This chapter presents the salient features of the disorder to assist those unfamiliar with CADASIL to recognize the disorder.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 159.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 209.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Kalimo H, Viitanen M, Amberla K, Juvonen V, Marttila R, Poyhonen M, et al. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. Neuropathol Appl Neurobiol. 1999;25:257–65.

    Article  PubMed  CAS  Google Scholar 

  2. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383:707–10.

    Article  PubMed  CAS  Google Scholar 

  3. Joutel A, Dodick DD, Parisi JE, Cecillon M, Tournier-Lasserve E, Bousser MG. De novo mutation in the Notch3 gene causing CADASIL. Ann Neurol. 2000;47:388–91.

    Article  PubMed  CAS  Google Scholar 

  4. Vikelis M, Papatriantafyllou J, Karageorgiou CE. A novel CADASIL-causing mutation in a stroke patient. Swiss Med Wkly. 2007;137:323–5.

    PubMed  Google Scholar 

  5. Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL. Stroke. 1999;30:1230–3.

    Article  PubMed  CAS  Google Scholar 

  6. Sundal C, Ekholm S, Andersen O. White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings. Acta Neurol Scand. 2010;121:328–37.

    Article  PubMed  CAS  Google Scholar 

  7. Tikka S, Mykkanen K, Ruchoux MM, Bergholm R, Junna M, Pöyhönen M, et al. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain. 2009;132(Pt 4):933–9.

    PubMed  Google Scholar 

  8. Werring D, Howard R, Leff A, Shorvon S. Systemic conditions and neurology. In: Clarke C, Howard R, Rossor M, Shorvon S, editors. Neurology, a queen square textbook. 1st ed. New York: Wiley-Blackwell; 2009. p. 932–3.

    Google Scholar 

  9. Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004;127:2533–9.

    Article  PubMed  Google Scholar 

  10. Sourander P, Walinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol. 1977;39:247–54.

    Article  PubMed  CAS  Google Scholar 

  11. Tornier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993;3(3):256–9.

    Article  Google Scholar 

  12. Bousser MG, Tournier-Lasserve E. Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19–21, 1993. Stroke. 1994;25:704–7.

    Article  PubMed  CAS  Google Scholar 

  13. Kempster PA, Alty JE. John Ruskin’s relapsing encephalopathy. Brain. 2008;131:2520–5.

    Article  PubMed  CAS  Google Scholar 

  14. Hemelsoet D, Hemelsoet K, Devreese D. The neurological illness of Friedrich Nietzsche. Acta Neurol Belg. 2008;108(10):9–16.

    PubMed  CAS  Google Scholar 

  15. Razvi M, Saif S, Muir KW. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Pract Neurol. 2004;4:50–5.

    Article  Google Scholar 

  16. Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry. 2005;76(5):739–41.

    Article  PubMed  CAS  Google Scholar 

  17. Dong Y, Hassan A, Zhang Z, Huber D, Dalageorgou C, Markus HS. Yield of screening for CADASIL mutations in lacunar stroke and leukoariosis. Stroke. 2003;34(1):203–5.

    Article  PubMed  Google Scholar 

  18. Ruchoux MM, Maurage CA. CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. J Neuropathol Exp Neurol. 1997;56(9):947–64.

    Article  PubMed  CAS  Google Scholar 

  19. Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, et al. C455R Notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. 2002;59(2):277–99.

    Article  PubMed  CAS  Google Scholar 

  20. Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44(5):731–9.

    Article  PubMed  CAS  Google Scholar 

  21. Herve D, Chabriat H. CADASIL. J Geriatr Psychiatry Neurol. 2010;23(4):269–76.

    Article  PubMed  CAS  Google Scholar 

  22. Chabriat H, Joutel A, Vahedi K, iba-Zizen MT, Tournier-Lasserve E, Bousser MG. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy). J Mal Vasc. 1996;21(5):277–82.

    PubMed  CAS  Google Scholar 

  23. Chabriat H, Joutel A, Vahedi K, iba-Zizen MT, Tournier-Lasserve E, Bousser MG. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy). Rev Neurol. 1997;153(6–7):376–85.

    PubMed  CAS  Google Scholar 

  24. Artavanis-Tsakonas S, Rand MD, Lake RJ. Notch signaling: cell fate control and signal integration in development. Science. 1999;284:770–6.

    Article  PubMed  CAS  Google Scholar 

  25. Chabriat H, Joutel A, Vahedi K, Tournier-Lasserve E, Bousser MG. CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. In: Moht JD, Choi DW, Grotti JC, Weir B, Wolf PA, editors. Stroke: pathophysiology, diagnosis and management, vol. 4. New York: Churchill-Livingstone; 2004. p. 687–92.

    Google Scholar 

  26. Choi JC. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease. J Clin Neurol. 2010;6:1–9.

    Article  PubMed  Google Scholar 

  27. Arboleda-Velasquez JF, Rampal R, Fung E, Darland DC, Liu M, Martinez MC, et al. CADASIL mutations impair Notch3 glycosylation by Fringe. Hum Mol Genet. 2005;14(12):1631–9.

    Article  PubMed  CAS  Google Scholar 

  28. Meschia JF, Worrall BB, Rich SS. Genetic susceptibility to ischemic stroke. Nat Rev Neurol. 2011;7:369–78.

    Article  PubMed  CAS  Google Scholar 

  29. Kim Y, Choi EJ, Choi CG, Kim G, Choi JH, Yoo HW, et al. Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. Neurology. 2006;66:1511–6.

    Article  PubMed  CAS  Google Scholar 

  30. Mazzei R, Conforti FL, Lanza PL, Sprovieri T, Lupo MR, Gallo O, et al. A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. Neurology. 2004;63:561–4.

    Article  PubMed  CAS  Google Scholar 

  31. Okeda R, Arima K, Kawai M. Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: examination of cerebral medullary arteries by reconstruction of serial sections of an autopsy case. Stroke. 2002;33:2565–9.

    Article  PubMed  Google Scholar 

  32. Scheid R, Heinritz W, Leyhe T, Thal DR, Schober R, Strenge S, et al. Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology. 2008;71:774–6.

    Article  PubMed  CAS  Google Scholar 

  33. Joutel A, Andreux F, Gaulis S, et al. The ectodomain of the notch receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest. 2000;105:597–605.

    Article  PubMed  CAS  Google Scholar 

  34. Coto E, Menendez M, Navarro R, Garcia-Castro M, Alvarez V. A new de novo Notch3 mutation causing CADASIL. Eur J Neurol. 2006;13:628–31.

    Article  PubMed  CAS  Google Scholar 

  35. Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study. Stroke. 1993;24(1):122–5.

    Article  PubMed  CAS  Google Scholar 

  36. Viswanathan A, Gray F, Bousser MG, Baudrimont M, Chabriat H. Cortical neuronal apoptosis in CADASIL. Stroke. 2006;37(11):2690–5.

    Article  PubMed  Google Scholar 

  37. Miao Q, Paloneva T, Tuominen S, Poyhonen M, Tuisku S, Viitanen M, et al. Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Brain Pathol. 2004;14:358–64.

    Article  PubMed  Google Scholar 

  38. Kalimo H, Ruchoux MM, Viitanen M, Kalaria RN. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathol. 2002;12(3):371–84.

    Article  PubMed  CAS  Google Scholar 

  39. Furby A, Vahedi K, Force M. Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: Use of skin biopsy electron microscopy study and direct genotype screening. J Neurol. 1998;245:734–40.

    Article  PubMed  CAS  Google Scholar 

  40. Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke. 1994;25(11):2291–2.

    Article  PubMed  CAS  Google Scholar 

  41. Ebke M, Dichgans M, Bergmann M, Voelter HU, Rieger P, Gasser T, et al. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand. 1997;95(6):351–7.

    Article  PubMed  CAS  Google Scholar 

  42. Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet. 2001;358(9298):2049–51.

    Article  PubMed  CAS  Google Scholar 

  43. Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346:934–9.

    Article  PubMed  CAS  Google Scholar 

  44. Reyes S, Viswanathan A, Godin O, Dufouil C, Benisty S, Hernandez K, et al. Apathy: a major symptom in CADASIL. Neurology. 2009;72:905–10.

    Article  PubMed  CAS  Google Scholar 

  45. Peters N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials. Stroke. 2004;35(7):1603–8.

    Article  PubMed  Google Scholar 

  46. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Headache Classification Committee of the International Headache Society. Cephalgia. 1988;7(suppl):8.

    Google Scholar 

  47. Hutchinson M, O’Riordan J, Javed M, Quin E, Macerlaine D, Wilcox T, et al. Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL). Ann Neurol. 1995;38(5):817–24.

    Article  PubMed  CAS  Google Scholar 

  48. Verin M, Rollard Y, Landgraf F, Chabriat H, Bompais B, Michel A, et al. New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as a prominent feature. J Neurol Neurosurg Psychiatry. 1995;59:579–85.

    Article  PubMed  CAS  Google Scholar 

  49. Chabriat H, Tournier-Lasserve E, Vahedi K, Leys D, Joutel A, Nibbio A, et al. Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus. Neurology. 1995;45(6):1086–91.

    Article  PubMed  CAS  Google Scholar 

  50. Schon F, Martin RJ, Prevett M, Clough C, Enevoldson TP, Markus HS. “CADASIL coma”: an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry. 2003;74(2):249–52.

    Article  PubMed  CAS  Google Scholar 

  51. Le Ber I, Carluer L, Derache N, Lalevee C, Ledoze F, Defer GL. Unusual presentation of CADASIL with reversible coma and confusion. Neurology. 2002;59(7):1115–6.

    Article  PubMed  Google Scholar 

  52. O’Rourke K, Crumlish N, Murphy D, Stack J, Murray B. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a familial cause of depression and headache. Ir J Psych Med. 2010;27:215–6.

    Google Scholar 

  53. Kumar SK, Mahr G. CADASIL presenting as bipolar disorder. Psychosomatics. 1997;38(4):397–8.

    Article  PubMed  CAS  Google Scholar 

  54. Ahearn E, Speer M, Chen Y, Steffens DC, Cassidy F, Van Meter S, et al. Investigation of notch 3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. Am J Med Genet. 2002;114:652–8.

    Article  PubMed  Google Scholar 

  55. Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K, et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 2006;77(2):175–80.

    Article  PubMed  CAS  Google Scholar 

  56. Taillia H, Chabriat H, Kurtz A, Verin M, Levy C, Vahedi K, et al. Cognitive alterations in non-demented CADASIL patients. Cerebrovasc Dis. 1998;8(2):97–101.

    Article  PubMed  CAS  Google Scholar 

  57. Peters N, Opherck C, Danek A, Ballard C, Herzog J, Dichgans M. The pattern of cognitive performance in CADASIL; a monogenic condition leading to subcortical ischemic vascular dementia. Am J Psychiatry. 2005;162(11):2078–85.

    Article  PubMed  Google Scholar 

  58. Viswanathan A, Godin O, Jouvent E, O’Sullivan M, Gschwendtner A, Peters N, et al. Impact of MRI markers in subcortical vascular dementia: a multi-modal analysis in CADASIL. Neurobiol Aging. 2010;31:1629–36.

    Article  PubMed  Google Scholar 

  59. O’Sullivan M, Ngo E, Viswanathan A, Jouvent E, Gschwendtner A, Saemann PG, et al. Hippocampal volume is an independent predictor of cognitive performance in CADASIL. Neurobiol Aging. 2009;30:890–7.

    Article  PubMed  Google Scholar 

  60. O’Sullivan M, Barrick TR, Morris RG, Clark CA, Markus HS. Damage within a network of white matter regions underlies executive dysfunction in CADASIL. Neurology. 2005;65:1584–90.

    Article  PubMed  Google Scholar 

  61. Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Shungu DC, et al. CADASIL in a North American family: clinical, pathological, and radiologic findings. Neurology. 1998;51(3):844–9.

    Article  PubMed  CAS  Google Scholar 

  62. Van Gerpen JA, Ahiskog JE, Petty GW. Progressive supranuclear palsy phenotype secondary to CADASIL. Parkinsonism Relat Disord. 2003;9:367–9.

    Article  PubMed  Google Scholar 

  63. Wegner F, Strecker K, Schwarz J, Wagner A, Heinritz W, Sommerer F, et al. Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system. J Neurol. 2007;254:1743–5.

    Article  PubMed  CAS  Google Scholar 

  64. Fattapposta F, Restuccia R, Pirro C, Malandrini A, Locuratolo N, Amabile G, et al. Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI. Funct Neurol. 2004;19:239–42.

    PubMed  Google Scholar 

  65. Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A, et al. Patterns of MRI lesions in CADASIL. Neurology. 1998;51:452–7.

    Article  PubMed  CAS  Google Scholar 

  66. Dichgans M, Filippi M, Bruning R, Iannucci G, Berchtenbreiter C, Minicucci L, et al. Quantitative MRI in CADASIL: correlation with disability and cognitive performance. Neurology. 1999;52(7):1361–7.

    Article  PubMed  CAS  Google Scholar 

  67. O’Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology. 2001;56(5):628–34.

    Article  PubMed  Google Scholar 

  68. Auer DP, Putz B, Gossl C, Elbel G, Gasser T, Dichgans M. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology. 2001;218(2):443–51.

    PubMed  CAS  Google Scholar 

  69. Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, et al. Diagnostic strategies in CADASIL. Neurology. 2002;59(8):1134–8.

    Article  PubMed  CAS  Google Scholar 

  70. Chabriat H, Mrissa R, Levy C, Vahedi K, Taillia H, Iba-Zizen MT, et al. Brain stem MRI signal abnormalities in CADASIL. Stroke. 1999;30(2):457–9.

    Article  PubMed  CAS  Google Scholar 

  71. Cumurciuc R, Guichard JP, Reizine D, Gray F, Bousser MG, Chabriat H. Dilation of Virchow-Robin spaces in CADASIL. Eur J Neurol. 2006;13(2):187–90.

    Article  PubMed  CAS  Google Scholar 

  72. Dichgans M, Holtmannspotter M, Herzog J, Peters N, Bergmann M, Yousry TA. Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study. Stroke. 2002;33(1):67–71.

    Article  PubMed  Google Scholar 

  73. van den Boom R, Lesnik Oberstein SA, Ferrari MD, Haan J, van Buchem MA. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages–3rd-6th decades. Radiology. 2003;229(3):683–90.

    Article  PubMed  Google Scholar 

  74. Viswanathan A, Chabriat H. Cerebral microhemorrhage. Stroke. 2006;37(2):550–5.

    Article  PubMed  Google Scholar 

  75. Peters N, Opherk C, Bergmann T, Castro M, Herzog J, Dichgans M. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol. 2005;62(7):1091–4.

    Article  PubMed  Google Scholar 

  76. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350(9090):1511–5.

    Article  PubMed  CAS  Google Scholar 

  77. Monet M, Domenga V, Lemaire B, Souilhol C, Langa F, Babinet C, et al. The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo. Hum Mol Genet. 2007;16(8):982–92.

    Article  PubMed  CAS  Google Scholar 

  78. Dichgans M, Wick M, Gasser T. Cerebrospinal fluid findings in CADASIL. Neurology. 1999;53:233.

    Article  PubMed  CAS  Google Scholar 

  79. Bentley P, Wang T, Malik O, Nicholas R, Ban M, Sawcer S, et al. CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. J Neurol Neurosurg Psychiatry. 2011;82(8):855–60.

    Article  PubMed  Google Scholar 

  80. Babikian V, Ropper A. Biswanger’s disease: a review. Stroke. 1987;18:2–12.

    Article  PubMed  CAS  Google Scholar 

  81. O’Riordan S, Nor AM, Hutchinson M. CADASIL imitating multiple sclerosis: the importance of MRI markers. Mult Scler. 2002;8:430e2.

    Google Scholar 

  82. Matthews PM, Tampieri D, Berkovic SF, Andermann F, Silver K, Chityat D, et al. Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome. Neurology. 1991;41:1043–6.

    Article  PubMed  CAS  Google Scholar 

  83. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. CADASIL. Lancet Neurol. 2009;8(7):643–53.

    Article  PubMed  Google Scholar 

  84. Forteza AM, Brozman B, Rabinstein AA, Romano JG, Bradley WG. Acetazolamide for the treatment of migraine with aura in CADASIL. Neurology. 2001;57(11):2144–5.

    Article  PubMed  CAS  Google Scholar 

  85. Weller M, Dichgans J, Klockgether T. Acetazolamide-responsive migraine in CADASIL. Neurology. 1998;50(5):1505.

    Article  PubMed  CAS  Google Scholar 

  86. Choi JC, Kang SY, Kang JH, Park JK. Intracerebral haemorrhages in CADASIL. Neurology. 2005;67:2042–4.

    Article  Google Scholar 

  87. Endres M, Laufs U, Huang Z, Nakamura T, Huang P, Moskowitz MA, et al. Stroke protection by 3-hydroxy-3-methylglutaryl (HMG)-CoA reductase inhibitors mediated by endothelial nitric oxide synthase. Proc Natl Acad Sci USA. 1998;95(15):8880–5.

    Article  PubMed  CAS  Google Scholar 

  88. Peters N, Freilinger T, Opherk C, Pfefferkorn T, Dichgans M. Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL. J Neurol Sci. 2007;260(1–2):100–5.

    Article  PubMed  CAS  Google Scholar 

  89. Singhal S, Bevan S, Barrick T, Rich P, Markus HS. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain. 2004;127:2031–8.

    Article  PubMed  Google Scholar 

  90. Poneh AS, Brice G, Martin RJ, Markus H. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype. Stroke. 2010;41:630–4.

    Article  Google Scholar 

  91. Viswanathan A, Guichard JP, Gschwendtner A, Buffon F, Cumurcuic R, Boutron C, et al. Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study. Brain. 2006;129:2375–83.

    Article  PubMed  Google Scholar 

  92. Dichgans M, Markus HS, Salloway S, Verkkoniemi A, Moline M, Wang Q, et al. Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. Lancet Neurol. 2008;7:310–8.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

We would like to thank all those who have contributed to our research, particularly the patients and families who donated DNA samples for this work. We would like to thank Dr. Eoin Kavanagh (Consultant Radiologist, Mater Misericordiae Hospital, Dublin) for providing the MRI images. OAR is a recipient of a James and Ester King Foundation New Investigator Award, Florida State. OAR is also funded by the American Heart Association (AHA) and the Myron and Jane Hanley Award in Stroke research. For further details on our research in cerebrovascular disease, please visit our Website: http://mayoresearch.mayo.edu/mayo/research/ross_lab/

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Kinley A. Roberts MB, BAO Bch .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer-Verlag London

About this chapter

Cite this chapter

Roberts, K.A., O’Rourke, K.E.T., Ross, O.A. (2013). Clinicogenetic and Pathologic Characteristics of CADASIL. In: Sharma, P., Meschia, J. (eds) Stroke Genetics. Springer, London. https://doi.org/10.1007/978-0-85729-209-4_6

Download citation

  • DOI: https://doi.org/10.1007/978-0-85729-209-4_6

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-0-85729-208-7

  • Online ISBN: 978-0-85729-209-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics