FAP Neuropathy and Emerging Treatments
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,...
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| Veröffentlicht in: | Current neurology and neuroscience reports 2014-03, Vol.14 (3), p.435-435, Article 435 |
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| creator | Adams, David Théaudin, Marie Cauquil, Cecile Algalarrondo, Vincent Slama, Michel |
| description | 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). |
| doi_str_mv | 10.1007/s11910-013-0435-3 |
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| subjects | Amyloid Neuropathies, Familial - diagnosis Amyloid Neuropathies, Familial - metabolism Amyloid Neuropathies, Familial - therapy Amyloidosis Animals Benzoxazoles - therapeutic use Biopsy Exocrine glands Family medical history Gene Silencing - physiology Genetic counseling Humans Liver Liver Transplantation Medicine Medicine & Public Health Mutation Mutation - genetics Nerve and Muscle (L Weimer Neurology Neurosciences Prealbumin - metabolism Section Editor Topical Collection on Nerve and Muscle |
| title | FAP Neuropathy and Emerging Treatments |
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