Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.
Vincenzo Di StefanoAntonino LupicaPaolo AlongeAntonia PignoloSofia Maria AugelloFrancesca GentileAndrea GagliardoFrancesca GigliaDaniele BrinchMaria CappelloDaniela Di LisiGiuseppina NovoEugenia BorgioneCarmela ScuderiFilippo BrighinaPublished in: European journal of neurology (2023)
A systematic screening for ATTRv-PN yielded an increased recognition of the disease in our neurological clinic. Unexplained weight loss associated with axonal polyneuropathy had the highest predictive value in the guidance of clinical suspicion. A focused approach for the screening of ATTRv-PN could lead to an earlier diagnosis and identification of asymptomatic carriers, who will be promptly treated after a strict follow-up at the clinical onset.