[Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence].

Abstract excerpt

The Portuguese type of familial amyloid polyneuropathy (FAP type I) is a disabling autosomic dominant disorder, which is caused by a point mutation in the transthyretin (TTR) gene. Other TTR gene mutations have been reported recently in other FAP. In the absence of monoclonal gammopathy, sporadic...

Topics

• Adult
• Aged
• Amyloidosis
• DNA Mutational Analysis
• Female
• Humans
• Male
• Middle Aged
• Mutation
• Peripheral Nervous System Diseases
• Prealbumin