Abstract
A previously unreported cluster of families containing 29 members with hereditary cystatin C amyloid angiopathy and cerebral haemorrhage is discribed. Two living members, a mother and her daughter had serious cerebral haemorrhage at the age of 35 and 29 years respectively. Their diagnosis is supported by low values of cystatin C in their cerebrospinal fluids and Congophilic material in the submandibular lymphnode and submandibular salivary gland which showed strong immune reactivity to specific anti-cystatin C antisera. The two geographically separate family isolates are most probably due to the same defective gene present in Icelanders for at least 2–3 centuries.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Jensson O, Gudmundsson G, Arnason A, Blöndal H, Peturs-dottir I, Thorsteinsson L, Grubb A, Löfberg H, Cohen D, Frangione B. Hereditary cystatin C (⋎-trace) amyloid angiopathy of the central nervous system causing cerebral hemorrhage. Act Neurol Scand 1987, 76, 102–114.
Löfberg H, Grubb AO, Nilsson EK, Jensson O, Gudmundsson G, Blöndal H, Arnason A and Thorsteinsson L. Immunohisto-chemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. Stroke 1987, 18, 431–440.
Thorsteinsson L, Blöndal H, Jensson O, Gudmundsson G. Distribution of amyloid deposits in Icelandic patients with hereditary cystatin C amyloid angiopathy. Abstract (submitted). VTh Intern. Symposium on Amyloidosis, Oct. 26–28, 1987, Hakone, Japan.
Newland JR, Linke RP and Lennert K. Amyloid deposits in lymphnodes. A morphologic and immunohistochemical study. Hum Pathol 1986, 1/7, 1245–1249.
Grubb A, Jensson O, Gudmundsson G, Arnason A, Löfberg H, Malm J. Abnormal metabolism of ⋎-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. N Engl J Med 1984, 311, 1547–1549.
Abrahamson M, Grubb A, Olafsson I and Lundwall A. Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. FEBS Lett. 1987, 216, 229–233.
Palsdottir A, Jensson O, Gudmundsson G, Arnason A, Abrahamson M, Grubb A, Olafsson I and Lundwall A. Diagnosis of hereditary cystatin C amyloid angiopathy (Icelandic type) by restriction fragment length polymorphism (RFLP) using full length cDNA probe for the cystatin C gene. VTh Intern. Symposium on Amyloidosis, Oct. 26–28, 1987, Hakone, Japan.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1988 Springer Science+Business Media New York
About this chapter
Cite this chapter
Jensson, O. et al. (1988). An Isolate of Families with Hereditary Cystatin C Amyloid Angiopathy and Cerebral Haemorrhage in the South of Iceland. In: Isobe, T., Araki, S., Uchino, F., Kito, S., Tsubura, E. (eds) Amyloid and Amyloidosis. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-0298-9_97
Download citation
DOI: https://doi.org/10.1007/978-1-4757-0298-9_97
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4757-0300-9
Online ISBN: 978-1-4757-0298-9
eBook Packages: Springer Book Archive