title: Clinical features of TTR-FAP in Portugal.
abstract: Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder characterized by the extracellular deposition of transthyretin (TTR) fibrils in several tissues, particularly in the peripheral nervous system. The largest focus of the disease is in Portugal where the age of disease onset shows a wide range (17-78 years), with 80% of cases developing symptoms before age 40. The characteristic fiber length-dependent sensory-motor and autonomic neuropathy are the neurological hallmark of TTR-FAP. Additional cardiovascular, gastrointestinal (GI), renal and ocular symptoms are the main systemic manifestations that account for phenotypic heterogeneity.
authors.affiliation: Department of Neurosciences, Centro Hospitalar Lisboa Norte, Hospital de Santa Maria, Lisbon, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Conceição
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000453:epidemiology* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011174:Portugal / Q000453:epidemiology; D011228:Prealbumin / Q000378:metabolism; D055815:Young Adult
chemical_list: D011228:Prealbumin