Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

ABSTRACT: Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominantly inherited disorder caused by an accumulation of amyloid fibrils in tissues due to mutations in the transthyretin (TTR) gene. The prevalence of hATTR is still unclear and likely underestimated in many countries. In order to apply new therapies in a targeted manner, early diagnosis and knowledge of phenotype-genotype correlations are mandatory. This study aimed to assess the prevalence and phenotypic spectrum of hATTR in Austria. Within the period of 2014-2019, patients with ATTR-associated cardiomyopathy and/or unexplained progressive polyneuropathies were screened for mutations in the TTR gene. We identified 43 cases from 22 families carrying 10 different TTR missense mutations and confirmed two mutational hot spots at

SUBMITTER: Auer-Grumbach M 

PROVIDER: S-EPMC7408866 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature