title: TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.
abstract: 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 polyneuropathy. Pathological findings were negative for amyloid deposits in about half of the cases. Sequence analysis of TTR gene revealed the presence of three different mutations (p.Val30Met, p.Phe64Leu, and p.Ala120Ser). The p.Val30Met was the most frequently identified mutation and it often occurred in apparently sporadic cases. Conversely, the p.Phe64Leu generally presented in a high percentage of familial cases in patients coming from Southern Italy. Clinicians should consider, to avoid misdiagnosis, the screening for TTR mutations in patients presenting with progressive axonal polyneuropathy of undetermined etiology, including apparently sporadic cases with pathological examinations negative for amyloid deposition.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168 Rome, RM, Italy. mluigetti@gmail.com
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Grande
authors.forename: Giulia
authors.initials: G
authors.lastname: Bisogni
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.forename: Mauro
authors.initials: M
authors.lastname: Lo Monaco
authors.forename: Luca
authors.initials: L
authors.lastname: Laurenti
authors.forename: Laura
authors.initials: L
authors.lastname: Obici
authors.forename: Giampaolo
authors.initials: G
authors.lastname: Merlini
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D000368:Aged; D000682:Amyloid / Q000378:metabolism; D017772:Amyloid Neuropathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*
chemical_list: D000682:Amyloid; D011228:Prealbumin