title: Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.
abstract: We compared early- with late-onset cases in 86 patients with familial amyloidotic polyneuropathy type I (FAP). Among these patients, 43 presented before age 50 (early-onset) and 43 after this age (late-onset). Sex and geographical distribution were similar, although a family history of the disorder was more frequent in early-onset cases. In late-onset disease, autonomic dysfunction was less frequent, but organ involvement and severe neuropathic pain were more frequent. Neurophysiological measurements were similar. FAP is a cause of neuropathy in elderly patients, in particular in those presenting with neuropathic pain.
authors.affiliation: Department of Neurology and Neuromuscular Unit, Institute of Molecular Medicine, Faculty of Medicine, Hospital de Santa Maria, Av Prof Egas Moniz, 1649-028, Lisbon, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Conceição
authors.forename: Mamede
authors.initials: M
authors.lastname: De Carvalho
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology*; D001342:Autonomic Nervous System Diseases / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005843:Geography; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008137:Longitudinal Studies; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009437:Neuralgia / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D011174:Portugal / Q000453:epidemiology; D011446:Prospective Studies; D017678:Sex Distribution; D014633:Valine / Q000235:genetics
chemical_list: D008715:Methionine; D014633:Valine