Amyloidosis pp 789-801 | Cite as

Hereditary Central Nervous System γ-Trace Amyloid Angiopathy and Stroke in Icelandic Families

  • Olafur Jensson
  • Gunnar Gudmundsson
  • Alfred Arnason
  • Hanes Blöndal
  • Anders Grugg
  • Helge Löfberg


Hereditary central nervous system amyloid angiopathy occurring in Icelanders is the first human disease known to be caused by selective deposition of fragments of the alkaline microprotein γ-trace forming amyloid fibrils in the walls of the brain and spinal cord arteries. This causes single or multiple strokes ending fatally in most cases. A regulation of cysteine proteinase activity has been suggested as the function of γ -trace. Studies of 128 affected members in eight families from the same geographical area, indicate transmission of an autosomal dominant gene over two centuries. About 90% of those who died of this disorder were less than 50 years. The studies indicate, that in few members the carrier state is compatible with reaching old age. This CNS angiopathy is characterized by an abnormally low value of γ-trace in the CSF or one third of the mean value found in comparable normal adults. Estimation of γ-trace in the CSF is presently the only test available for supporting diagnosis of the disorder and differentiating it from other types of cerebral hemorrhage. This test will significantly improve genetic counseling and make search for genetic linkage possible.


Cysteine Proteinase Activity Form Amyloid Fibril Multiple Stroke Autosomal Dominant Gene Asymptomatic Family Member 
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  1. 1.
    G. Gudmundsson, J. Hallgrimsson, T. A. Jonasson, and O. Bjarnason, Brain, 95, 387 (1972).PubMedCrossRefGoogle Scholar
  2. 2.
    D. H. Cohen, H. Feiner, O. Jensson, and B. Frangione, J. Exp. Med., 158, 623 (1984).CrossRefGoogle Scholar
  3. 3.
    A. Grubb and H. Lofberg, Proc. Natl. Acad. Sci., 79, 3024 (1982).PubMedCrossRefGoogle Scholar
  4. 4.
    A. Grubb, O. Jennson, G. Gudmundsson, A. Arnason, H. Lofberg, and J. Malm, New Engl. J. Med. (in press) (1984).Google Scholar
  5. 5.
    J. Brzin, T. Popovic, V. Turk, U. Borchart, and W. Machledit, Biochem. Biophys. Res. Commun., 118, 203 (1984).CrossRefGoogle Scholar
  6. 6.
    A. J. Barrett, M. E. Davies, and A. Grubb, Biochemical and Biophysical Research Communications, 120, 631 (1984).PubMedCrossRefGoogle Scholar
  7. 7.
    M. I. Stokes and R. J. Trickey, J. Clin. Path., 26, 241 (1973).PubMedCrossRefGoogle Scholar
  8. 8.
    H. Lofberg and A. O. Grubb, Scand. J. Clin. Lab. Invest., 39, 619 (1979).CrossRefGoogle Scholar
  9. 9.
    A. Arnason, O. Jennson, et al., Unpublished observation (1984).Google Scholar
  10. 10.
    W. Luyendijk and G. T. A. Bots, in: Advances in Diagnosis Therapy ( H. W. Pia, C. Langmaid, and J. Zierski, eds.), Springer Verlag, Berlin (1980), pp. 50–56.Google Scholar
  11. 11.
    A. R. Wattendorff, G. T. A. Bots, L. N. Went, and L. J. Endtz, J. Neurol. Sci., 55, 121 (1982).PubMedCrossRefGoogle Scholar
  12. 12.
    I. F. Rowe, O. Jensson, P. D. Lewis, J. Candy, G. A. Tennent, and M. B. Pepys, Neuropathol. and Applied. Neurobiol., 10, 53 (1984).CrossRefGoogle Scholar
  13. 13.
    O. Jensson, W. Luyendijk, et al., Unpublished observations (1984).Google Scholar
  14. 14.
    A. R. Spurr, J. Ultrastruct. Res., 26, 31 (1969).PubMedCrossRefGoogle Scholar
  15. 15.
    M. Skinner, J. D. Sipe, R. A. Yood, T. Shirahama, and A. S. Cohen, in: C-Reactive Protein and the Plasma Protein Response to Tissue Injury (J. Kushner, J. E. Volanakis, and H. Gequrz, eds.), Ann. N.Y. Acad.Sci., 389, 190–198 (1982).PubMedCrossRefGoogle Scholar
  16. 16.
    H. Blondal, et al., Unpublished observations (1984).Google Scholar

Copyright information

© Plenum Press, New York 1986

Authors and Affiliations

  • Olafur Jensson
    • 1
  • Gunnar Gudmundsson
    • 2
  • Alfred Arnason
    • 1
  • Hanes Blöndal
    • 3
  • Anders Grugg
    • 4
  • Helge Löfberg
    • 5
  1. 1.Blood Bank, Genetic DivisionNational Hospital University of IcelandReykjavikIceland
  2. 2.Department of NeurologyNational Hospital University of IcelandReykjavikIceland
  3. 3.Department of PathologyNational Hospital University of IcelandReykjavikIceland
  4. 4.Department of Clinical ChemistryUniversity of Lund, Malmo General HospitalMalmöSweden
  5. 5.Department of Clinical PathologyUniversity of Lund, Malmo General HospitalMalmöSweden

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