Abstract
Background Glu89Gln transthyretin (TTR) variant is a well-known cause of systemic amyloidosis with a cardiologic, neurologic or mixed phenotype. Even though Glu89Gln transthyretin (TTR) variant has been described worldwide, it remains unknown whether geographical area influences the phenotypic expression of the disease (as happens with the Val30Met mutation, which is known to manifest with different phenotypes in different geographical contexts). We hypothesized that significant phenotypic differences exist between patients with Glu89Gln-related amyloidosis according to the specific geographic origin.
Highlights
Glu89Gln transthyretin (TTR) variant is a well-known cause of systemic amyloidosis with a cardiologic, neurologic or mixed phenotype
Even though Glu89Gln transthyretin (TTR) variant has been described worldwide, it remains unknown whether geographical area influences the phenotypic expression of the disease
We hypothesized that significant phenotypic differences exist between patients with Glu89Gln-related amyloidosis according to the specific geographic origin
Summary
Glu89Gln transthyretin-related amyloidosis in Italy and Bulgaria: does geographic area influence phenotype beyond the shared mutation?. Christian Gagliardi1*, Mariana Gospodinova, Simone Longhi, Agnese Milandri, Mario Cinelli, Ivailo Tournev, Fabrizio Salvi, Claudio Rapezzi. From First European Congress on Hereditary ATTR amyloidosis Paris, France. From First European Congress on Hereditary ATTR amyloidosis Paris, France. 2-3 November 2015
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