Article
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2013
Luigetti Marco, Conte Amelia, Del Grande Alessandra, Bisogni Giulia, Madia Francesca, Lo Monaco Mauro, Laurenti Luca, Obici Laura, Merlini Giampaolo, Sabatelli Mario
Abstract excerpt
Familial amyloid polyneuropathy (FAP) is a rare condition caused by mutations of the transthyretin (TTR) gene and it is generally characterized by a length-dependent polyneuropathy affecting prevalently the small fibers. We reviewed clinical, electrophysiological and pathological findings of 15 unrelated patients with genetically confirmed TTR-FAP. All patients presented a progressive sensory-motor...
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