Familial amyloid polyneuropathy involving a homozygous Val30Met mutation in the amyloidogenic transthyretin gene presenting with superficial siderosis: a case report.

Abstract excerpt

A 76-year-old woman was admitted to our hospital because of transthyretin-related familial amyloid polyneuropathy (TTR-FAP). She had developed bilateral vitreous opacity at the age of 58 and paroxysmal atrial fibrillation at the age of 62. She suffered gait disturbance and dysesthesia of the limbs at the age of 68 and was diagnosed with FAP involving a homozygous Val30Met mutation in the amyloidogenic...

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