title: Clinical variant of familial amyloid polyneuropathy.
abstract: Hereditary amyloidosis with early and prominent peripheral nerve involvement is often designated familial amyloid polyneuropathy (FAP). The abnormality usually lies in the transthyretin (TTR) gene. We describe a patient with a tyr77 TTR gene mutation who presented with sensorimotor polyneuropathy but no other systemic symptoms of amyloidosis. This is one of a few documented cases of the tyr77 mutation in North America. The clinical and electrophysiologic features of this unusual cause of sensorimotor polyneuropathy are discussed.
authors.affiliation: University of Colorado Neurosciences Center, 1635 North Ursula Street, Box F-727, Aurora, CO 80010, USA. dianna.quan@uchsc.edu
authors.forename: Dianna
authors.initials: D
authors.lastname: Quan
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Cohen
mesh_terms: D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics*; D002349:Carpal Tunnel Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D009431:Neural Conduction; D009656:North America; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin