Abstract
Background Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. More than 100 different mutations of the transthyretin gene are identified worldwide, but still the first described Val30Met is the most common one. The mutant amyloidogenic transthyretin protein causes systemic accumulation of amyloid fibrils that results in organ dysfunction and death. TTR-associated FAP is a progressive and fatal disease if left untreated and should be considered in the differential diagnosis of any patient with a progressive polyneuropathy, especially with an accompanying autonomic involvement.
Highlights
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene
The mutant amyloidogenic transthyretin protein causes systemic accumulation of amyloid fibrils that results in organ dysfunction and death
Patients and methods We studied clinical, electrophysiological, histopathological, and genetic characteristics in five patients from two unrelated families with Glu89Gln mutation in TTR gene
Summary
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. More than 100 different mutations of the transthyretin gene are identified worldwide, but still the first described Val30Met is the most common one. The mutant amyloidogenic transthyretin protein causes systemic accumulation of amyloid fibrils that results in organ dysfunction and death. TTR-associated FAP is a progressive and fatal disease if left untreated and should be considered in the differential diagnosis of any patient with a progressive polyneuropathy, especially with an accompanying autonomic involvement
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