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FAP Neuropathy and Emerging Treatments

  • Nerve and Muscle (L Weimer, Section Editor)
  • Published:
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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).

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Conflict of Interest

Vincent Alagalarrondo declares the he has no conflict of interest.

David Adams has received consultancy fees from ISIS and ALNYLAM. He has also received honoraria from Pfizer (Symposium PNS ST MALO 2013 and Symposium ISFAP RIO) and travel expenses from Pfizer for CONGRESS ISFAP 2013.

Cecile Cauquil has received honoraria from LFB and Pfizer. She has also received travel expenses from LFB, Pfizer, and Biogen.

Marie Théaudin has received speaker honoraria from Pfizer. She has also received travel expenses from Pfizer, LFB Biomedicaments, BiogenIdec, Novartis, and Bayer.

Michel Slama has received consultancy fees from PfizerFoldr'x. He has also grants from ISIS Pharmaceuticals.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. APHP, HUPS, Univ Paris Sud, le Kremlin Bicêtre Cedex, France

    David Adams, Marie Théaudin, Cecile Cauquil, Vincent Algalarrondo & Michel Slama

  2. Department of Neurology, CHU Bicêtre, 78 rue du général leclerc, 94275, le Kremlin Bicêtre Cedex, France

    David Adams, Marie Théaudin & Cecile Cauquil

  3. Department of Cardiology (NNERf), CHU Antoine Beclere, Clamart, France

    Vincent Algalarrondo

  4. Inserm U788, French Referral Center for Familial Amyloid Polyneuropathy (NNERf), Paris, France

    David Adams, Marie Théaudin, Vincent Algalarrondo & Michel Slama

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  2. Marie Théaudin
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  3. Cecile Cauquil
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  4. Vincent Algalarrondo
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  5. Michel Slama
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Correspondence to David Adams.

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This article is part of the Topical Collection on Nerve and Muscle

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Adams, D., Théaudin, M., Cauquil, C. et al. FAP Neuropathy and Emerging Treatments. Curr Neurol Neurosci Rep 14, 435 (2014). https://doi.org/10.1007/s11910-013-0435-3

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  • DOI: https://doi.org/10.1007/s11910-013-0435-3

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