Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic
European Journal of Neurology2023Vol. 31(1), pp. e16065–e16065
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Vincenzo Di Stefano, Antonino Lupica, Paolo Alonge, Antonia Pignolo, Sofia Maria Augello, Francesca Romana Gentile, Andrea Gagliardo, Francesca Giglia, Daniele Brinch, Maria Cappello, Daniela Di Lisi, Giuseppina Novo, Eugenia Borgione, Carmela Scuderi, Filippo Brighina
Abstract
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.
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