Transthyretin related familial amyloid polyneuropathy

Familial amyloid polyneuropathy (FAP) applies to a group of dominantly inhe rited severe diseases with endoneurial and polyvisceral deposition of amylo idosis. The transthyretin, essentially produced by the liver, is the main p rotein involved in FAP. Up to 80 different mutations of the transthyretin g ene are identified, many of them being associated with small fibres sensory -motor and autonomic polyneuropathy and/or cardiomyopathy. Variable age of onset, clinical expression and penetrance are largely reported. However, ph enotypic-genotypic correlations remain unclear and the genetic or environme ntal modifying factors are unknown. The liver transplantation is proposed a s a curative treatment of FAP resulting in an improvement of the general co ndition and a stabilization of the neuropathy, in a majority of patients. A t present, the ratio benefit/risk seems acceptable when the procedure is pe rformed early in the course of the disease. Curr Opin Neurol 13:569-573. (C ) 2000 Lippincott Williams & Wilkins.