title: [Familial amyloidotic polyneuropathy type I].
abstract: Familial amyloidotic polyneuropathy type I is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The abnormality usually lies in the transthyretin (TTR) gene. We report a 25 years old man with 18 months history of dysesthesias and pain in the toes, abnormal micturition and sexual dysfunction. Neurophysiologically studies disclosed a sensory-motor axonal polyneuropathy. Autonomic tests showed sympathetic and parasympathetic involvement. An electron micrograph of sural nerve revealed amyloid fibrils in the endoneurium. His mother died after a clinical history suggestive, in retrospect, of familial amyloidotic polyneuropathy type I. The clinical and genetic analysis of this cause of polyneuropathy are discussed.
authors.affiliation: Servicio de Neurología, Hospital Naval de Valparaíso. rebecarlos@hotmail.com
authors.forename: Carlos
authors.initials: C
authors.lastname: Guevara
authors.forename: Nelson
authors.initials: N
authors.lastname: Barrientos
authors.forename: Alex
authors.initials: A
authors.lastname: Flores
authors.forename: Juan
authors.initials: J
authors.lastname: Idiáquez
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged