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Abstract

Type I familial amyloidotic polyneuropathy is an autosomal dominant, inherited systemic amyloidosis characterized initially by dissociated sensory disturbance and autonomic dysfunction. The amyloid fibril protein seen in patients of Portuguese, Japanese, and Swedish descent in the U.S. mainly consists of a variant form of transthyretin (also called prealbumin) with the substitution of methionine for valine at position 30. Methods have been developed to detect this variant transthyretin in the serum, and to detect a base change in a mutated transthyretin gene. The biochemical and genetic abnormalities in transthyretin are completely linked to the clinical diagnosis of type I familial amylodotic polyneuropathy. These diagnostic methods may allow early diagnosis and genetic counseling to avoid transmission of this intractable disorder to the next generation.