Journal ArticleDOI
Familial amyloid polyneuropathy
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TLDR
Oral administration of tafamidis meglumine, which prevents misfolding and deposition of mutated TTR, is under evaluation in patients with TTR FAP, and genetic counselling is recommended for the prevention of all types of FAP.Abstract:
Familial amyloid polyneuropathies (FAPs) are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait. Nerve lesions are induced by deposits of amyloid fibrils, most commonly due to mutated transthyretin (TTR). Less often the precursor of amyloidosis is mutant apolipoprotein A-1 or gelsolin. The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide. The penetrance and age at onset of FAP among people carrying the same mutation vary between countries. The symptomatology and clinical course of FAP can be highly variable. TTR FAP typically causes a nerve length-dependent polyneuropathy that starts in the feet with loss of temperature and pain sensations, along with life-threatening autonomic dysfunction leading to cachexia and death within 10 years on average. TTR is synthesised mainly in the liver, and liver transplantation seems to have a favourable effect on the course of neuropathy, but not on cardiac or eye lesions. Oral administration of tafamidis meglumine, which prevents misfolding and deposition of mutated TTR, is under evaluation in patients with TTR FAP. In future, patients with FAP might benefit from gene therapy; however, genetic counselling is recommended for the prevention of all types of FAP.read more
Citations
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Journal ArticleDOI
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
Merrill D. Benson,Márcia Waddington-Cruz,John L. Berk,Michael Polydefkis,Peter J. Dyck,Annabel K. Wang,Violaine Planté-Bordeneuve,Fabio Barroso,Giampaolo Merlini,Laura Obici,Morton A. Scheinberg,Thomas H. Brannagan,William J. Litchy,Carol J. Whelan,Brian M. Drachman,David C. Adams,Stephen B. Heitner,Isabel Conceição,Hartmut H. Schmidt,Giuseppe Vita,Josep M. Campistol,Josep Gamez,Peter D. Gorevic,Edward Gane,Amil M. Shah,Scott D. Solomon,Brett P. Monia,Steven G. Hughes,Jesse Kwoh,Bradley W. McEvoy,Shiangtung W. Jung,Brenda F. Baker,Elizabeth J. Ackermann,Morie A. Gertz,Teresa Coelho +34 more
TL;DR: Inotersen improved the course of neurologic disease and quality of life in patients with hereditary transthyretin amyloidosis and improvements were independent of disease stage, mutation type, or the presence of cardiomyopathy.
Journal ArticleDOI
Safety and efficacy of RNAi therapy for transthyretin amyloidosis
Teresa Coelho,David H. Adams,Ana Martins da Silva,Pierre Lozeron,Philip N. Hawkins,Timothy Mant,Javier Perez,Joseph Chiesa,Steve Warrington,Elizabeth Tranter,Malathy Munisamy,Rick Falzone,Jamie Harrop,Jeffrey Cehelsky,Brian Bettencourt,Mary Geissler,James Butler,Alfica Sehgal,Rachel Meyers,Qingmin Chen,Todd Borland,Renta Hutabarat,Valerie A. Clausen,Rene Alvarez,Kevin Fitzgerald,Christina Gamba-Vitalo,Saraswathy V. Nochur,Akshay Vaishnaw,Dinah W.Y. Sah,Jared Gollob,Ole B. Suhr +30 more
TL;DR: A therapeutic approach mediated by RNA interference (RNAi) could reduce the production of transthyretin in peripheral nerves and the heart as mentioned in this paper, which is caused by the deposition of hepatocyte-derived tranthymretin amyloid in peripheral nerve and heart.
Journal ArticleDOI
Evaluation for liver transplantation in adults: 2013 practice guideline by the American Association for the Study of Liver Diseases and the American Society of Transplantation
TL;DR: The purpose of the current Guidelines is to provide an evidence-based set of recommendations for the evaluation of adult patients who are potentially candidates for LT, and they are intended to be flexible, in contrast to standards of care, which are inflexible policies to be followed in every case.
Journal ArticleDOI
EASL Clinical Practice Guidelines: Liver transplantation
Patrizia Burra,Andrew K. Burroughs,Ivo Graziadei,Jacques Pirenne,Juan Carlos Garcia Valdecasas,Paolo Muiesan,Didier Samuel,Xavier Forns +7 more
TL;DR: This Clinical Practice Guideline has been developed to assist physicians and other healthcare providers during the evaluation process of candidates for LT and to help them in the correct management of patients after LT.
Journal ArticleDOI
Transthyretin (TTR) Cardiac Amyloidosis
Frederick L. Ruberg,John L. Berk +1 more
TL;DR: The systemic amyloidoses are a family of diseases induced by misfolded or misassembled proteins that can infiltrate the heart, resulting in progressive diastolic and systolic dysfunction, congestive heart failure, and death.
References
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TL;DR: The molecular basis of various types of amyloidosis is reviewed and new ways of treating these disorders are proposed.
Journal ArticleDOI
A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.
Journal ArticleDOI
Multiplicity of cerebrospinal fluid functions: New challenges in health and disease
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Journal ArticleDOI
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TL;DR: A genetic cause should be sought in all patients with amyloidsosis that is not the reactive systemic amyloid A type and in whom confirmation of the light-chain (AL) type cannot be obtained.
Journal ArticleDOI
Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans
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TL;DR: The assessment of elderly black patients with unexplained heart disease should include a consideration of transthyretin amyloidosis, particularly that related to the Ile 122 allele.
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