Article
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.
Journal of the peripheral nervous system : JPNS - 1 Jun 2011
Cappellari Manuel, Cavallaro Tiziana, Ferrarini Moreno, Cabrini Ilaria, Taioli Federica, Ferrari Sergio, Merlini Giampaolo, Obici Laura, Briani Chiara, Fabrizi Gian Maria
Abstract excerpt
Autosomal-dominant transthyretin (TTR)-related amyloidosis usually manifests in the second to fourth decade with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure. We retrospectively analyzed seventeen probands, including thirteen apparently isolated cases, carrying eight mutations of TTR gene (age of onset = 60.4 ± 13.5 years). Thirteen patients...
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