FAP neuropathy and emerging treatments.
Détails
ID Serval
serval:BIB_845C00971B80
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
FAP neuropathy and emerging treatments.
Périodique
Current neurology and neuroscience reports
ISSN
1534-6293 (Electronic)
ISSN-L
1528-4042
Statut éditorial
Publié
Date de publication
03/2014
Peer-reviewed
Oui
Volume
14
Numéro
3
Pages
435
Langue
anglais
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Publication Status: ppublish
Résumé
Transthyretin familial amyloid polyneuropathy (TTR-FAP) classically presents as a length dependent small fiber polyneuropathy in endemic countries like Portugal. In nonendemic countries, it may mimic a variety of chronic polyneuropathies, with several phenotypes: ataxic, upper limb onset neuropathy, or motor. In these cases, there is usually a late onset and no positive family history. TTR gene sequencing appears the most pertinent first-line test for diagnosis. Cardiac involvement of various severities is common in FAP. Liver transplantation remains the standard antiamyloid therapy with better results in Val30Met TTR-FAP of early onset. Antiamyloid medication has been developed. (1) TTR stabilizers: Tafamidis was the first drug approved in Europe in stage 1 (walking unaided) TTR-FAP to slow progression of the disease; diflunisal has been assessed in a phase 3 clinical trial; (2) TTR gene silencing is a new strategy to inhibit production of both mutant and nonmutant TTR with antisense oligonucleotides or SiRNA (2 ongoing phase 3 clinical trials).
Mots-clé
Amyloid Neuropathies, Familial/diagnosis, Amyloid Neuropathies, Familial/metabolism, Amyloid Neuropathies, Familial/therapy, Animals, Benzoxazoles/therapeutic use, Gene Silencing/physiology, Humans, Liver Transplantation, Mutation/genetics, Prealbumin/metabolism
Pubmed
Web of science
Création de la notice
12/12/2017 18:27
Dernière modification de la notice
20/08/2019 15:44