Vincenzo Di Stefano, Antonino Lupica, Paolo Alonge, Antonia Pignolo, Sofia Maria Augello, Francesca Gentile, Andrea Gagliardo, Francesca Giglia, Daniele Brinch, Maria Cappello, Daniela Di Lisi, Giuseppina Novo, Eugenia Borgione, Carmela Scuderi, Filippo Brighina
BACKGROUND AND PURPOSE: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. METHODS: A prospective systematic genetic screening for ATTRv-PN was proposed in patients presenting with a sensory-motor idiopathic polyneuropathy and two or more "red flags" among the following: family history of polyneuropathy or cardiopathy, bilateral carpal tunnel syndrome, cardiac insufficiency, renal amyloidosis, lumbar tract stenosis, autonomic dysfunction, idiopathic gastrointestinal disease, amyloid deposits on biopsy, and vitreous opacities...
September 19, 2023: European Journal of Neurology