Article
[Diagnosis of familial amyloid polyneuropathy--gene analysis with primer-directed enzymatic amplification of DNA, isolation of plasma variant prealbumin and immunohistochemical identification of tissue amyloid protein].
Rinsho shinkeigaku = Clinical neurology - 1 Apr 1991
Ikeda S, Nakano T, Yanagisawa N, Hanyu N, Suzuki T, Sakaki Y
Abstract excerpt
Type I familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary generalized amyloidosis characterized by polyneuropathy and autonomic nerve failure. The main component of the amyloid fibril protein in this disorder has been shown to be a variant prealbumin with a single substitution of a methionine residue for valine at position 30. In the present study we have investigated 19 patients with FAP...
Topics
- Adolescent
- Adult
- Aged
- Amyloid beta-Protein Precursor
- Amyloidosis
- Autonomic Nervous System Diseases
- DNA
- Female
- Genetic Variation
- Humans