David Adams1, Cécile Cauquil, Céline Labeyrie. 1. aService de Neurologie, CHU Bicêtre, Assistance Publique - Hôpitaux de Paris bNational Reference Center for Familial Amyloid Poyneuropathy, Le Kremlin Bicêtre cINSERM U1195 dUniversité Paris Sud, Orsay eFILNEMUS, Marseille, France.
Abstract
PURPOSE OF REVIEW: Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatment's research. RECENT FINDINGS: Access to TTR gene sequencing permit diagnosis and first reports of the disease in nonendemic countries (EU countries, United States, China, India). Most studies showed a more severe natural history of the neuropathy in nonendemic countries. First European consensus for management has been established. New long-term results allow selection of best candidates for liver transplantation based on phenotype and cardiac involvement. Multimodal evaluation of small fiber neuropathy and resonance magnetic neurography are under development. New results are available for long-term effect of tafamidis in late-onset patients. TTR gene silencing drugs are subject to phase 3 clinical trials. SUMMARY: New methods for the evaluation of the disease are being developed. The TTR gene silencing strategy will be available by the end of 2017.
PURPOSE OF REVIEW: Transthyretinfamilial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatment's research. RECENT FINDINGS: Access to TTR gene sequencing permit diagnosis and first reports of the disease in nonendemic countries (EU countries, United States, China, India). Most studies showed a more severe natural history of the neuropathy in nonendemic countries. First European consensus for management has been established. New long-term results allow selection of best candidates for liver transplantation based on phenotype and cardiac involvement. Multimodal evaluation of small fiber neuropathy and resonance magnetic neurography are under development. New results are available for long-term effect of tafamidis in late-onset patients. TTR gene silencing drugs are subject to phase 3 clinical trials. SUMMARY: New methods for the evaluation of the disease are being developed. The TTR gene silencing strategy will be available by the end of 2017.
Authors: David Adams; Yukio Ando; João Melo Beirão; Teresa Coelho; Morie A Gertz; Julian D Gillmore; Philip N Hawkins; Isabelle Lousada; Ole B Suhr; Giampaolo Merlini Journal: J Neurol Date: 2020-01-06 Impact factor: 4.849
Authors: Jennifer Kollmer; Ute Hegenbart; Christoph Kimmich; Ernst Hund; Jan C Purrucker; John M Hayes; Stephen I Lentz; Georges Sam; Johann M E Jende; Stefan O Schönland; Martin Bendszus; Sabine Heiland; Markus Weiler Journal: Ann Clin Transl Neurol Date: 2020-04-25 Impact factor: 4.511