FAP neuropathy and emerging treatments.

Details

Serval ID
serval:BIB_845C00971B80
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
FAP neuropathy and emerging treatments.
Journal
Current neurology and neuroscience reports
Author(s)
Adams D., Théaudin M., Cauquil C., Algalarrondo V., Slama M.
ISSN
1534-6293 (Electronic)
ISSN-L
1528-4042
Publication state
Published
Issued date
03/2014
Peer-reviewed
Oui
Volume
14
Number
3
Pages
435
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
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).

Keywords
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
Create date
12/12/2017 17:27
Last modification date
20/08/2019 14:44
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