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.
Keywords
- Restriction Fragment Length Polymorphism
- Submandibular Salivary Gland
- Amyloid Deposit
- Strong Immune Reactivity
- Salivary Gland Tissue
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References
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© 1988 Springer Science+Business Media New York
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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
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DOI: https://doi.org/10.1007/978-1-4757-0298-9_97
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