| Main clinical features
|
fatal hereditary syndrome, characterized by the systemic accumulation of mutated transthyretin-derived amyloid fibrils causing progressive deterioration of the peripheral nerves and autonomic failure, leading to death within 10-15 yearsof diagnosis
exhibiting variability in penetrance, early or late age of onset, and clinical expression with a marked genetic anticipation in some families, unlikely to be caused by triplet repeat expansions,
a wide geographic distribution, Portuguese, Japanese, Swedish, Swiss, German types and others (TTR deposit) |