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Genetic and Clinical Characteristics of Moyamoya Disease in Europeans

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Trends in Neurovascular Surgery

Part of the book series: Acta Neurochirurgica Supplementum ((NEUROCHIRURGICA,volume 112))

Abstract

The European form of Moyamoya disease clearly differs from the Asian form. Clinically the timing of vasculopathy onset and a lower rate of hemorrhage are striking as compared to the Asian Moyamoya disease.

Single nucleotide polymorphisms that play a role in atherosclerosis, vascular growth and transformation processes have been found to be associated with the European form. Candidate gene associations found in Asian patients could not be replicated in European patients.

To elucidate the characteristics, we describe the clinical features as well as the genetic findings that we have found in our combined cohorts of European patients.

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References

  1. Baba T, Houkin K, Kuroda S (2008) Novel epidemiological features of Moyamoya disease. J Neurol Neurosurg Psychiatry 79:900–904

    Article  PubMed  CAS  Google Scholar 

  2. Braun KP, Bulder MM, Chabrier S, Kirkham FJ, Uiterwaal CS, Tardieu M, Sebire G (2009) The course and outcome of unilateral intracranial arteriopathy in 79 children with ischaemic stroke. Brain 132:544–557

    Article  PubMed  CAS  Google Scholar 

  3. Chiu D, Shedden P, Grotta JC (1998) Clinical features of Moyamoya disease in the United States. Stroke 29:1347–1351

    Article  PubMed  CAS  Google Scholar 

  4. Czabanka M, Pena-Tapia P, Schubert GA, Woitzik J, Horn P, Schmiedek P, Vajkoczy P (2009) Clinical implications of cortical microvasculature in adult Moyamoya disease. J Cereb Blood Flow Metab 29:1383–1387

    Article  PubMed  Google Scholar 

  5. Czabanka M, Vajkoczy P, Schmiedek P, Horn P (2009) Age-dependent revascularization patterns in the treatment of Moyamoya disease in a European patient population. Neurosurg Focus 26:E9

    Article  PubMed  Google Scholar 

  6. Goyal MS, Hallemeier CL, Zipfel GJ, Rich KM, Grubb RL Jr, Chicoine MR, Moran CJ, Cross DT 3rd, Dacey RG Jr, Derdeyn CP (2010) Clinical features and outcome in North American adults with idiopathic basal arterial occlusive disease without moyamoya collaterals. Neurosurgery 67:278–285

    Article  PubMed  Google Scholar 

  7. Graham JF, Matoba A (1997) A survey of Moyamoya disease in Hawaii. Clin Neurol Neurosurg 99(Suppl 2):S31–S35

    Article  PubMed  Google Scholar 

  8. Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, Buja LM, Milewicz DM (2009) Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 84:617–627

    Article  PubMed  CAS  Google Scholar 

  9. Guzman R, Khan N, Steinberg G (2010) Moyamoya disease in North America. In: Cho B-K, Tominaga T (eds) Moyamoya disease update. Springer, New York

    Google Scholar 

  10. Guzman R, Lee M, Achrol A, Bell-Stephens T, Kelly M, Do HM, Marks MP, Steinberg GK (2009) Clinical outcome after 450 revascularization procedures for Moyamoya disease. Clinical article. J Neurosurg 111:927–935

    Article  PubMed  Google Scholar 

  11. Hallemeier CL, Rich KM, Grubb RL Jr, Chicoine MR, Moran CJ, Cross DT 3rd, Zipfel GJ, Dacey RG Jr, Derdeyn CP (2006) Clinical features and outcome in North American adults with moyamoya phenomenon. Stroke 37:1490–1496

    Article  PubMed  Google Scholar 

  12. Hanggi D, Mehrkens JH, Schmid-Elsaesser R, Steiger HJ (2008) Results of direct and indirect revascularisation for adult European patients with Moyamoya angiopathy. Acta Neurochir Suppl 103:119–122

    Article  PubMed  CAS  Google Scholar 

  13. Imaizumi T, Hayashi K, Saito K, Osawa M, Fukuyama Y (1998) Long-term outcomes of pediatric Moyamoya disease monitored to adulthood. Pediatr Neurol 18:321–325

    Article  PubMed  CAS  Google Scholar 

  14. Kelly ME, Bell-Stephens TE, Marks MP, Do HM, Steinberg GK (2006) Progression of unilateral Moyamoya disease: a clinical series. Cerebrovasc Dis 22:109–115

    Article  PubMed  Google Scholar 

  15. Khan N, Schuknecht B, Boltshauser E, Capone A, Buck A, Imhof HG, Yonekawa Y (2003) Moyamoya disease and Moyamoya syndrome: experience in Europe; choice of revascularisation procedures. Acta Neurochir (Wien) 145:1061–1071; discussion 1071

    Article  CAS  Google Scholar 

  16. Khan N, Yonekawa Y (2008) Moyamoya angiopathy in Europe: the beginnings in Zurich, practical lessons learned, increasing awareness and future perspectives. Acta Neurochir Suppl 103:127–130

    Article  PubMed  CAS  Google Scholar 

  17. Kraemer M, Berlit P (2010) Primary central nervous system vasculitis and Moyamoya disease: similarities and differences. J Neurol 257:816–819

    Article  PubMed  Google Scholar 

  18. Kraemer M, Heienbrok W, Berlit P (2008) Moyamoya disease in Europeans. Stroke 39:3193–3200

    Article  PubMed  Google Scholar 

  19. Kuroda S, Ishikawa T, Houkin K, Nanba R, Hokari M, Iwasaki Y (2005) Incidence and clinical features of disease progression in adult Moyamoya disease. Stroke 36:2148–2153

    Article  PubMed  Google Scholar 

  20. Kuroda S, Iwasaki Y (2006) Current review of familial Moyamoya disease. Nippon Rinsho 64(Suppl 8):750–754

    PubMed  Google Scholar 

  21. Kuwabara Y, Ichiya Y, Sasaki M, Yoshida T, Masuda K, Matsushima T, Fukui M (1997) Response to hypercapnia in moyamoya disease. Cerebrovascular response to hypercapnia in pediatric and adult patients with Moyamoya disease. Stroke 28:701–707

    Article  PubMed  CAS  Google Scholar 

  22. Numaguchi Y, Gonzalez CF, Davis PC, Monajati A, Afshani E, Chang J, Sutton CL, Lee RR, Shibata DK (1997) Moyamoya disease in the United States. Clin Neurol Neurosurg 99(Suppl 2):S26–S30

    Article  PubMed  Google Scholar 

  23. Roder C, Nayak NR, Khan N, Tatagiba M, Inoue I, Krischek B (2010) Genetics of Moyamoya disease. J Hum Genet 55(11):711–716

    Article  PubMed  Google Scholar 

  24. Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B (2010) Common genetic polymorphisms in Moyamoya and atherosclerotic disease in Europeans. Childs Nerv Syst 27(2):245–252

    Article  PubMed  Google Scholar 

  25. Roder C, Peters V, Kasuya H, Nishizawa T, Takehara Y, Berg D, Schulte C, Khan N, Tatagiba M, Krischek B (2010) Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients. Acta Neurochir (Wien) 152(12):2153–2160

    Article  Google Scholar 

  26. Suzuki J, Kodama N (1983) Moyamoya disease: a review. Stroke 14:104–109

    Article  PubMed  CAS  Google Scholar 

  27. Tagawa T, Naritomi H, Mimaki T, Yabuuchi H, Sawada T (1987) Regional cerebral blood flow, clinical manifestations, and age in children with Moyamoya disease. Stroke 18:906–910

    Article  PubMed  CAS  Google Scholar 

  28. Uchino K, Johnston SC, Becker KJ, Tirschwell DL (2005) Moyamoya disease in Washington state and California. Neurology 65:956–958

    Article  PubMed  Google Scholar 

  29. Vajkoczy P (2009) Moyamoya disease: collateralization is everything. Cerebrovasc Dis 28:258

    Article  PubMed  Google Scholar 

  30. Yonekawa Y, Fandino J, Hug M, Wiesli M, Fujioka M, Khan N (2010) Moyamoya angiopathy in Europe. In: Cho B-K, Tominaga T (eds) Moyamoya disease update. Springer, New York

    Google Scholar 

  31. Yonekawa Y, Ogata N, Kaku Y, Taub E, Imhof HG (1997) Moyamoya disease in Europe, past and present status. Clin Neurol Neurosurg 99(Suppl 2):S58–S60

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Neurosurgery, University of Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany

    Boris Krischek, Marcos Tatagiba & Constantin Roder

  2. Division of Neurosurgery, Medical Center East, Tokyo Women’s Medical University, 2-1-10 Nishiogu, Arakawa-ku, Tokyo, 116-8567, Japan

    Hidetoshi Kasuya

  3. Moyamoya Clinic, Children’s University Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland

    Nadia Khan

  4. Department of Neurology, Alfried Krupp von Bohlen und Halbach Hospital, Essen, Germany

    Markus Kraemer

Authors
  1. Boris Krischek
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  2. Hidetoshi Kasuya
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  3. Nadia Khan
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  4. Marcos Tatagiba
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  5. Constantin Roder
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  6. Markus Kraemer
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Corresponding author

Correspondence to Boris Krischek .

Editor information

Editors and Affiliations

  1. Dept. Neurosurgery, Kyoto National Hospital, Mukaihata-cho 1-1, Kyoto, 612-8555, Japan

    Tetsuya Tsukahara

  2. University Medical Center, Department of Neurosurgery, Rudolf Magnus Institute of Neuroscience, Heidelberglaan 100, Utrecht, 3508 GA, Netherlands

    Luca Regli

  3. Universitätsklinikum Düsseldorf, Neurochirurgische Klinik, Moorenstraße 5, Düsseldorf, 40225, Germany

    Daniel Hänggi

  4. Universitätsklinikum Düsseldorf, Institut für Radiologie, Moorenstraße 5, Düsseldorf, 40335, Germany

    Bernd Turowski

  5. Neurochirurgische Klinik, Universitätsklinikum Düsseldorf, Moorenstr. 5, Düsseldorf, 40225, Germany

    Hans-Jakob Steiger

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© 2011 Springer-Verlag/Wien

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Krischek, B., Kasuya, H., Khan, N., Tatagiba, M., Roder, C., Kraemer, M. (2011). Genetic and Clinical Characteristics of Moyamoya Disease in Europeans. In: Tsukahara, T., Regli, L., Hänggi, D., Turowski, B., Steiger, HJ. (eds) Trends in Neurovascular Surgery. Acta Neurochirurgica Supplementum, vol 112. Springer, Vienna. https://doi.org/10.1007/978-3-7091-0661-7_6

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  • DOI: https://doi.org/10.1007/978-3-7091-0661-7_6

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  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-0660-0

  • Online ISBN: 978-3-7091-0661-7

  • eBook Packages: MedicineMedicine (R0)

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