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
Titre
FAP neuropathy and emerging treatments.
Périodique
Current neurology and neuroscience reports
Auteur(s)
Adams D., Théaudin M., Cauquil C., Algalarrondo V., Slama M.
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
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
03/03/2018 18:54
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