title: Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy.
abstract: In transthyretin familial amyloid polyneuropathy (TTR-FAP), single clinical features rarely remain isolated and are usually accompanied by other symptoms. We describe a patient with TTR-FAP, who had recurrent episodes of syncope for 4 years as an overt and isolated symptom. Later, he experienced paresthesia in the hands, and impotence. Molecular analysis of the TTR gene revealed a Thr49Ala mutation. The unusual clinical presentation presents a diagnostic challenge.
authors.affiliation: Dipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Clinica Neurologica 2, Policlinico Universitario, University of Messina, 98125 Messina, Italy. giuseppe.vita@unime.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.forename: Anna
authors.initials: A
authors.lastname: Mazzeo
authors.forename: Rita
authors.initials: R
authors.lastname: Di Leo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
mesh_terms: D000200:Action Potentials / Q000502:physiology; D028227:Amyloid Neuropathies, Familial / Q000378:metabolism / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D010525:Peripheral Nerves / Q000503:physiopathology; D011228:Prealbumin / Q000378:metabolism*; D012008:Recurrence; D013575:Syncope / Q000503:physiopathology*
chemical_list: D011228:Prealbumin