Article
Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2012
Salvi Fabrizio, Pastorelli Francesca, Plasmati Rosaria, Bartolomei Illaria, Dall'Osso Daniela, Rapezzi Claudio
Abstract excerpt
131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical "Portuguese variant" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.