An Isolate of Families with Hereditary Cystatin C Amyloid Angiopathy and Cerebral Haemorrhage in the South of Iceland
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.
KeywordsRestriction Fragment Length Polymorphism Submandibular Salivary Gland Amyloid Deposit Strong Immune Reactivity Salivary Gland Tissue
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