title: Clinical and therapeutic implications of presymptomatic gene testing for familial amyloidotic polyneuropathy (FAP).
abstract: Presymptomatic gene testing for familial amyloidotic polyneuropathies (FAP) is integrated in genetic counseling protocols common to other "Later onset, hereditary, autosomal dominant, no cure diseases" namely Huntington's Disease (HD) and Machado-Joseph disease (MJD). However, presymptomatic gene testing has specific clinical and therapeutic implications for FAP. Moreover, at least in Portugal, FAP ATTR Val30Met is a serious health problem. The most important implications are: the possibility of family planning including prenatal and preimplantation diagnosis; treatment with liver transplantation (TX); clinical follow-up according to protocols for early diagnosis which will allow patients to access therapy in useful time. This concept of useful time in FAP treatment is discussed. The growing possibilities of different therapeutic approaches are considered. In conclusion, presymptomatic gene testing for FAP may have a positive impact on candidate quality and prolongation of life, and on the future of disease studies.
authors.affiliation: Department of Neurology, University Hospital of Santa Maria Centro de Estudos Egas Moniz, IMM of Faculty of Medicine of Lisbon, Lisbon, Portugal. nucnmuschsmlx@mail.telepac.pt
authors.forename: Maria de Lourdes
authors.initials: Mde L
authors.lastname: Sales-Luís
authors.forename: Isabel
authors.initials: I
authors.lastname: Conceição
authors.forename: Mamede
authors.initials: M
authors.lastname: de Carvalho
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011174:Portugal / Q000453:epidemiology; D012307:Risk Factors