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familial amyloid polyneuropathy

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https://www.readbyqxmd.com/read/28412068/vitreous-amyloidosis-ocular-systemic-and-genetic-insights
#1
Pradeep Venkatesh, Harathy Selvan, Sundararajan Baskar Singh, Divya Gupta, Seema Kashyap, Shreyas Temkar, Varun Gogia, Koushik Tripathy, Rohan Chawla, Rajpal Vohra
PURPOSE: To report the unique clinical and surgical characteristics encountered in eyes with vitreous amyloidosis. Systemic evaluation and visual outcome after vitrectomy are discussed. A novel mutation in the transthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described. DESIGN: Retrospective, observational study. PARTICIPANTS: Ten eyes of 5 patients from 2 pedigrees with a diagnosis of vitreous amyloidosis...
April 12, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28393570/tafamidis-delays-disease-progression-in-patients-with-early-stage-transthyretin-familial-amyloid-polyneuropathy-additional-supportive-analyses-from-the-pivotal-trial
#2
Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart, Leslie Amass
BACKGROUND: Tafamidis, a non-NSAID highly specific transthyretin stabilizer, delayed neurologic disease progression as measured by Neuropathy Impairment Score-Lower Limbs (NIS-LL) in an 18-month, double-blind, placebo-controlled randomized trial in 128 patients with early-stage transthyretin V30M familial amyloid polyneuropathy (ATTRV30M-FAP). The current post hoc analyses aimed to further evaluate the effects of tafamidis in delaying ATTRV30M-FAP progression in this trial. METHODS: Pre-specified, repeated-measures analysis of change from baseline in NIS-LL in this trial (ClinicalTrials...
April 10, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28333852/re-intervention-in-de-novo-vitreous-opacities-after-pars-plana-vitrectomy-in-familial-amyloidotic-polyneuropathy-ttr-val30metportuguese-patients
#3
Natália Novais Ferreira, David Afonso Cunha Dias, Rui Pedro Afonso Carvalho, Maria Teresa Pardal Monteiro Coelho
PURPOSE: To report management of de novo vitreous amyloid opacities after previous pars plana vitrectomy in familial amyloidotic polyneuropathy transthyretin Val30Met. METHODS: This work is a retrospective observational consecutive case series of five eyes of four patients. Demographic data, transthyretin mutation involved, age at the beginning of disease, duration of disease, treatment (liver transplant or tafamidis), time between vitrectomy and re-intervention, and ophthalmologic changes were evaluated...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#4
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28226286/peripheral-nerve-ultrasonography-in-patients-with-transthyretin-amyloidosis
#5
Simon Podnar, Stayko Sarafov, Ivailo Tournev, Gregor Omejec, Janez Zidar
OBJECTIVE: To systematically study peripheral nerve morphology in patients with transthyretin (TTR) amyloidosis and TTR gene mutation carriers using high-resolution ultrasonography (US). METHODS: In this prospective cross-sectional study we took a structured history, performed neurological examination, and measured peripheral nerve cross-sectional areas (CSAs) bilaterally at 28 standard locations using US. Demographic and US findings were compared to controls. RESULTS: Peripheral nerve CSAs were significantly larger in 33 patients with familial amyloid polyneuropathy (FAP) compared to 50 controls, most dramatically at the common entrapment sites (median nerve at the wrist, ulnar nerve at the elbow), and in the proximal nerve segments (median nerve in the upper arm, sciatic nerve in the thigh)...
April 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28220836/nucleobindin-1-binds-to-multiple-types-of-pre-fibrillar-amyloid-and-inhibits-fibrillization
#6
Alessandra Bonito-Oliva, Shahar Barbash, Thomas P Sakmar, W Vallen Graham
During amyloid fibril formation, amyloidogenic polypeptides misfold and self assemble into soluble pre-fibrillar aggregates, i.e., protofibrils, which elongate and mature into insoluble fibrillar aggregates. An emerging class of chaperones, chaperone-like amyloid binding proteins (CLABPs), has been shown to interfere with aggregation of particular misfolded amyloid peptides or proteins. We have discovered that the calcium-binding protein nuclebindin-1 (NUCB1) is a novel CLABP. We show that NUCB1 inhibits aggregation of islet-amyloid polypeptide associated with type 2 diabetes mellitus, a-synuclein associated with Parkinson's disease, transthyretin V30M mutant associated with familial amyloid polyneuropathy, and Aβ42 associated with Alzheimer's disease by stabilizing their respective protofibril intermediates...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#7
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28168209/familial-amyloid-polyneuropathy-in-portugal-new-genes-modulating-age-at-onset
#8
Diana Santos, Teresa Coelho, Miguel Alves-Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos, Alda Sousa
OBJECTIVES: Familial amyloid polyneuropathy (FAP ATTRV30M) shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We will now explore some candidate genes involved in altered disease pathways in order to assess their role as genetic modifiers of AO, using a family-centered approach. METHODS: We analyzed 62 tagging SNPs from nine genes-NGAL,MMP-9,BGN,MEK1,MEK2,ERK1,ERK2,HSP27, and YWHAZ - in a sample of 318 V30M Portuguese patients (106 families), currently under follow-up...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28134587/amyloidosis-of-the-lung
#9
REVIEW
Andras Khoor, Thomas V Colby
CONTEXT: -Amyloidosis is a heterogeneous group of diseases characterized by the deposition of congophilic amyloid fibrils in the extracellular matrix of tissues and organs. To date, 31 fibril proteins have been identified in humans, and it is now recommended that amyloidoses be named after these fibril proteins. Based on this classification scheme, the most common forms of amyloidosis include systemic AL (formerly primary), systemic AA (formerly secondary), systemic wild-type ATTR (formerly age-related or senile systemic), and systemic hereditary ATTR amyloidosis (formerly familial amyloid polyneuropathy)...
February 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28090046/an-isolated-case-of-late-onset-amyloidogenic-transthyretin-type-familial-amyloid-polyneuropathy-associated-with-a-mutant-transthyretin-substituting-methionine-for-valine-at-position-30-showing-latent-progressive-cardiac-involvement-confirmed-by-serial-annual
#10
Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-Ichi Hirata
Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28051995/in-vitro-modelling-of-familial-amyloidotic-polyneuropathy-allows-quantitative-detection-of-transthyretin-amyloid-fibril-like-structures-in-hepatic-derivatives-of-patient-specific-induced-pluripotent-stem-cells
#11
Jeannine Hoepfner, Mandy Kleinsorge, Oliver Papp, Susanne Alfken, Robin Heiringhoff, Andreas Pich, Vanessa Sauer, Andree Zibert, Gudrun Göhring, Hartmut Schmidt, Malte Sgodda, Tobias Cantz
The transthyretin protein is thermodynamically destabilised by mutations in the transthyretin gene, promoting the formation of amyloid fibrils in various tissues. Consequently, impaired autonomic organ function is observed in patients suffering from transthyretin-related Familial Amyloidotic Polyneuropathy (FAP). The influence of individual genetic backgrounds on fibril formation as a potential cause of genotype-phenotype variations needs to be investigated in order to ensure efficient patient-specific therapies...
January 4, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/27971798/global-prevalence-estimates-of-transthyretin-familial-amyloid-polyneuropathy-attr-fap-a-systematic-review-and-projections
#12
H Schmidt, M Waddington-Cruz, M Botteman, J A Carter, A S Chopra, M Stewart, M Hopps, S Fallet, L Amass
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971679/temporal-trends-in-transthyretin-familial-amyloid-polyneuropathy-natural-survival-over-a-century
#13
M Inês, T Coelho, I Conceição, P Saramago Goncalves, M Carvalho, J Costa
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27971665/treatment-comparative-effectiveness-in-rare-diseases-the-case-of-transthyretin-familial-amyloid-polyneuropathy-survival
#14
M Inês, T Coelho, I Conceição, P Saramago Goncalves, M Carvalho, J Costa
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27931573/survival-predictors-in-liver-transplantation-time-varying-effect-of-red-blood-cell-transfusion
#15
C Real, D Sobreira Fernandes, P Sá Couto, F Correia de Barros, S Esteves, I Aragão, L Fonseca, J Aguiar, T Branco, Z Fernandes Moreira
BACKGROUND: Many attempts have been undertaken to better predict outcome after liver transplantation. The aim of this study was to identify the pre- and intraoperative variables that may influence the survival after liver transplantation, at a single institution. METHODS: Anesthetic records from 543 consecutive patients who underwent liver transplantation from June 2006 to June 2014 were reviewed in this retrospective study. Patients undergoing retransplantation were excluded from the analysis, as were patients with familial amyloid polyneuropathy...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27919414/early-diagnosis-in-patients-with-transthyretin-familial-amyloid-polyneuropathy-a-comparative-study
#16
Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gállego-Lezáun, Tomás Ripoll-Vera, Mercedes Usón-Martín, Eugenia Cisneros-Barroso
INTRODUCTION AND OBJECTIVE: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease. METHODS: A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP)...
January 20, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/27884058/efficiency-of-silencing-rna-for-removal-of-transthyretin-v30m-in-a-ttr-leptomeningeal-animal-model
#17
Paula Gonçalves, Helena Martins, Susete Costelha, Luis F Maia, Maria Joao Saraiva
Some TTR mutants target the central nervous system (CNS). Familial amyloid polyneuropathy (FAP) with leptomeningeal involvement has been described in 9% of transthyretin (TTR) mutations and in valine for methionine at position 30 (V30M) patients. These individuals present dementia, ataxia, brain hemorrhages and focal neurological episodes (FNEs). FNEs occurred also in V30M FAP patients with longer disease duration, who have undergone liver transplant to remove the source of plasma mutant TTR as a form of treatment...
December 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27878441/long-term-treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-clinical-and-neurophysiological-study
#18
Violaine Planté-Bordeneuve, Farida Gorram, Hayet Salhi, Tarik Nordine, Samar S Ayache, Philippe Le Corvoisier, Daniel Azoulay, Cyrille Feray, Thibaud Damy, Jean-Pascal Lefaucheur
Tafamidis is a transthyretin (TTR) stabilizer recently approved to slow the neurologic impairment in TTR familial amyloid polyneuropathy (TTR-FAP). The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy. However, the effect of the drug in the non-Val30Met patients, at a more advanced stage of the disease and on the long term, is less known. In this study, we report the effect of Tafamidis in 43 TTR-FAP patients with a variety of pathogenic mutations, including 53% of non-Val30Met variants, at different stages of neuropathy followed on the long term...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27873215/current-and-future-treatment-approaches-in-transthyretin-familial-amyloid-polyneuropathy
#19
REVIEW
Philippe Kerschen, Violaine Planté-Bordeneuve
Treatment of transthyretin familial amyloid polyneuropathy (TTR FAP) must be tailored to disease stage. Patients with early stage disease (i.e., without major impairment in walking ability), especially younger patients, should be referred as soon as possible for liver transplantation (LT) in the absence of major comorbid conditions. LT remains the most effective treatment option to date and should be offered to these patients as early as possible. Bridging therapy with an oral TTR stabilizer (tafamidis or diflunisal, according to local access to these treatments) should be started as soon as the diagnosis of TTR FAP is established...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27872470/hereditary-amyloidosis-with-recurrent-lung-infiltrates
#20
Alberto E Revelo, Crischelle Magaspi, George Maguire, Wilbert S Aronow
BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement...
November 22, 2016: American Journal of Case Reports
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