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Management of stage 1 TTR FAP: French experience

Authors: David Adams, Marie Théaudin, Pierre Lozeron, Clovis Adam, Guillemette Beaudonnet, Céline Labeyrie, Catherine Lacroix and Cécile Cauquil

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P65

Content type: Poster presentation Published on: 2 November 2015

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Specific ophtalmologic changes in late onset familial amyloid polyneuropathy (FAP) portuguese patients

Authors: Natalia Ferreira, David Dias and Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P63

Content type: Poster presentation Published on: 2 November 2015

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Retinal and choroidal vascular abnormalities in TTR-FAP

Authors: Antoine Rousseau, Emmanuel Barreau, Céline Terrada, Lydie Bonin, Pierre-Raphaêl Rothschild, Marie Théaudin, David Adams and Marc Labetoulle

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P61

Content type: Poster presentation Published on: 2 November 2015

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Cardiomyopathy and peripheral polyneuropathy severity in patients with Glu89Gln mutation at the time of diagnosis

Authors: Mariana Gospodinova, Stayko Sarafov, Velina Guergueltcheva, Andrey Kirov, Teodora Chamova, Albena Todorova, Ivailo Tournev and Stefan Denchev

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P59

Content type: Poster presentation Published on: 2 November 2015

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Axon reflex-mediated vasodilation is reduced in proportion to disease severity in familial amyloid polyneuropathy

Authors: Thierry Kuntzer, Irène Calero-Romero, Bernard Waeber and Francois Feihl

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P57

Content type: Poster presentation Published on: 2 November 2015

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Identification of a new variant of TTR involved in familial amyloid cardiomyopathy (FAC) in Brazil: from the patient to the protein

Authors: Priscila Ferreira, Carolina Andrade, Ricardo Santanna, Natalia Varejão, Salvado Ventura, Fernando Palhano, Marcia Cruz and Debora Foguel

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P55

Content type: Poster presentation Published on: 2 November 2015

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Spotting senile systemic amyloidosis: why we miss it

Authors: Marianna Fontana, Cristina C Quarta, Janet Gilbertson, Thirusha Lane, Carol J Whelan, Julian D Gillmore, Philip N Hawkins and James C Moon

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P51

Content type: Poster presentation Published on: 2 November 2015

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Usefulness of 99mTc-HMDP scintigraphy for the etiologic diagnosis and prognosis of cardiac amyloidosis

Authors: Arnault Galat, Jean Rosso, Aziz Guellich, Axel Van Der Gucht, Jean-Luc Dubois-Randé, Violaine Plante-Bordeneuve, Emmanuel Itti and Thibaud Damy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P49

Content type: Poster presentation Published on: 2 November 2015

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Quantitative comparison between amyloid deposition detected by 99mTc-diphosphonate imaging and myocardial deformation evaluated by strain echocardiography in transthyretin related cardiac amyloidosis

Authors: Gianluca Di Bella, Fabio Minutoli, Anna Mazzeo, Claudia Stancanelli, Luca Gentile, Sergio Baldari, Scipione Carerj and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P47

Content type: Poster presentation Published on: 2 November 2015

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Coexistence of degenerative aortic stenosis and wild type transthyretin-related cardiac amyloidosis: a potentially dangerous association that can be non-invasively identified

Authors: Simone Longhi, Agnese Milandri, Christian Gagliardi, Massimiliano Lorenzini, Francesco Saia, Ornella Leone, Pier Luigi Guidalotti and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P45

Content type: Poster presentation Published on: 2 November 2015

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Comparison of MIBG and Diphosphonate scintigraphy in cardiac involvement of aTTR-FAP

Authors: Renata Chequer, Ludivine Eliahou, Hamza Regaieg, Vincent Algalarrondo, Sylvie Dinanian, Dominique Le Guludec, Michel S Slama and Francois Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P43

Content type: Poster presentation Published on: 2 November 2015

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MR-Neurography of the sural nerve in patients with hereditary amyloidosis

Authors: Jennifer Kollmer, Markus Weiler, Jan Purrucker, Ute Hegenbart, Stefan Schönland, Christoph Kimmich, Martin Bendszus and Mirko Pham

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P40

Content type: Poster presentation Published on: 2 November 2015

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Delayed small bowel octreotide response in patients with hereditary transthyretin amyloidosis

Authors: Wixner Jonas, Ole Suhr, Pontus Karling and Greger Lindberg

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P36

Content type: Poster presentation Published on: 2 November 2015

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Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation

Authors: Gianluca Di Bella, Fabio Minutoli, Anna Mazzeo, Matteo Cssale, Claudia Stancanelli, Scipione Carerj, Sergio Baldari and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P34

Content type: Poster presentation Published on: 2 November 2015

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Prevalence, risk factors and correlation with cardiac involvement of carpal tunnel syndrome in amyloidosis

Authors: Agnese Milandri, Simone Longhi, Christian Gagliardi, Mario Cinelli, Serena Foffi, Ilaria Bartolomei, Fabrizio Salvi and Claudio Rapezzi

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P32

Content type: Poster presentation Published on: 2 November 2015

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Clinical and laboratory test in patients with familial amyloid polyneuropathy: differences between symptomatic patients and asymptomatic carriers

Authors: Manuel Raya-Cruz, Juan Buades-Reines, Cristina Gallego-Lezaun, Ignacio Ferullo, Tomas Ripoll-Vera, Mercedes Uson-Martín and Hernan Andreu-Serra

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P30

Content type: Poster presentation Published on: 2 November 2015

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Transthyretin familial amyloid polyneuropathy impact on health-related quality of life

Authors: Mónica Inês, Teresa Coelho, Isabel Conceição, Lara Ferreira, Mamede de Carvalho and João Costa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O28

Content type: Oral presentation Published on: 2 November 2015

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Five novel TTR variants: associated phenotypes and structural consequences

Authors: Dorota Rowczenio, Helen Lachmann, Ashutosh Wechalekar, Janet Gilbertson, Marianna Fontana, Carol Whelan, Julian Gillmore and Philip Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P28

Content type: Poster presentation Published on: 2 November 2015

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Quality of life in ATTR amyloidosis

Authors: Thirusha Lane, Alica Bangova, Marianna Fontana, David F Hutt, Svetla G Strehina, Carol J Whelan, Philip N Hawkins and Julian D Gillmore

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O26

Content type: Oral presentation Published on: 2 November 2015

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Diflunisal in late-onset FAP patients with moderate to severe neuropathy

Authors: Laura Obici, Andrea Cortese, Stefano Perlini, Alessandro Lozza, Simona Casarini, Enrico Alfonsi and Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O24

Content type: Oral presentation Published on: 2 November 2015

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Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic

Authors: Tomas Pika, Pavla Latalova, Helena Hulkova, Patrik Flodr, Vladimir Mejzlik and Vlastimil Scudla

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P24

Content type: Poster presentation Published on: 2 November 2015

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Treatment of gastrointestinal complication in transthyretin amyloidosis. A single centre’s experience

Authors: Ole B Suhr

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I23

Content type: Invited speaker presentation Published on: 2 November 2015

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Patient experience with hereditary and senile systemic amyloidoses: a survey from the Amyloidosis Research Consortium

Authors: Isabelle Lousada, Raymond L Comenzo, Heather Landau, Spencer Guthrie and Giampaolo Merlini

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P22

Content type: Poster presentation Published on: 2 November 2015

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Minimal assessment of the index case: the point of view of the cardiologist

Authors: Michel Slama

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I21

Content type: Invited speaker presentation Published on: 2 November 2015

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FAP in India: a first genetically proven case

Authors: Daniel Pan, Jérôme Bouligand, Anne Guiochon-Mantel and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P20

Content type: Poster presentation Published on: 2 November 2015

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TTR amyloidosis: a scientific journey since Andrade

Authors: Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I19

Content type: Invited speaker presentation Published on: 2 November 2015

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ATTR Amyloidosis: development of cardiac symptoms during 6 years of follow up in different ATTR-variants

Authors: Sebastiaan Klaassen, Jasper Tromp, Bouke Hazenberg, Dirk-Jan Van Veldhuisen, Maarten Van Den Berg and Peter Van Der Meer

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O18

Content type: Oral presentation Published on: 2 November 2015

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Does the course of Val122Ile differ from SSA, or is selection bias a factor?

Authors: Hallie Geller, Tara Mirto and Rodney Falk

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P18

Content type: Poster presentation Published on: 2 November 2015

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DPD Scintigraphy for diagnosis of amyloidosis in 1191 patients– a single centre experience

Authors: David Hutt, Helen Mcphillips, Stephanie Mcknight, Julian Gillmore, Carol Whelan, Helen Lachmann, Ashutosh Wechalekar and Philip Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O16

Content type: Oral presentation Published on: 2 November 2015

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Familial amyloidotic polyneuropathy associated with the transthyretin CYS 114 gene in a Russian pair of monozygotic twins.

Authors: Igor Srokov Igor, Galina Diukova, Aleksandr Pogromov, Maria Kovalchuk and Eduard Generozov

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P16

Content type: Poster presentation Published on: 2 November 2015

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Biopsy experience in a FAP endemic area

Authors: Manuel Melo Pires

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I15

Content type: Invited speaker presentation Published on: 2 November 2015

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Quantitative MR-neurographic parameters can determine and specify nerve injury in amyloid related polyneuropathy

Authors: Jennifer Kollmer, Ernst Hund, Stefan Schönland, Ute Hegenbart, Christoph Kimmich, Arnt Kristen, Martin Bendszus and Mirko Pham

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O14

Content type: Oral presentation Published on: 2 November 2015

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Do we need to demonstrate Amyloid in tissue?

Authors: Laurent Magy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I13

Content type: Invited speaker presentation Published on: 2 November 2015

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Neurophysiological pitfalls in TTR-FAP Val30Met

Authors: Isabel Conceição, Cristiana Silva, Mariana Costa and José Castro

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O12

Content type: Oral presentation Published on: 2 November 2015

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Early intervention with tafamidis provides long-term benefit in delaying neurological progression in patients with transthyretin familial amyloid polyneuropathy

Authors: Marcia Waddington-Cruz, Leslie Amass, Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni and Hui Hua Li

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P12

Content type: Poster presentation Published on: 2 November 2015

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Minimal assessment of index cases: the point of view of the neurologist

Authors: Ernst Hund

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I11

Content type: Invited speaker presentation Published on: 2 November 2015

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Analysis of disease progression in patients with transthyretin cardiac amyloidosis

Authors: Julian D Gilmore, Mathew S Maurer, John Vest, Verena Karsten, Christine Powell, Andrew Strahs, Jared Gollob and Philip N Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O10

Content type: Oral presentation Published on: 2 November 2015

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TUDCA as an autophagic modulator of ATTR V30M Amyloidosis

Authors: Cristina Teixeira and Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P10

Content type: Poster presentation Published on: 2 November 2015

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Wild-type transthyretin amyloidosis in female patients

Authors: Arnt V Kristen, Ralf Bauer, Fabian aus dem Siepen, Christoph Kimmich, Katrin Hinderhofer, Christoph Röcken and Hugo A Katus

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O9

Content type: Oral presentation Published on: 2 November 2015

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ATTR-FAP: liver transplantation vs oral medication, how and when

Authors: Bo Goran Erikzon

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I8

Content type: Invited speaker presentation Published on: 2 November 2015

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A phase 3 clinical trial with ISIS-TTRRx, a 2nd-generation antisense oligonucleotide targeting transthyretin (TTR), for the treatment of TTR amyloid cardiomyopathy

Authors: Helen Millns, Rito Bergemann, Elizabeth Ackermann, Brett Monia and Mary Ann Lukas

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P8

Content type: Poster presentation Published on: 2 November 2015

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TTR-FAP: liver transplant vs oral medication. How and when

Authors: Teresa Coelho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I6

Content type: Invited speaker presentation Published on: 2 November 2015

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Tissue remodeling after RNAi-mediated knockdown of TTR in a Familial Amyloidotic Polyneuropathy mouse model

Authors: Nádia Pereira Gonçalves, Paula Gonçalves, Miguel Ventosa, Ana Varela Coelho and Maria João Saraiva

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P5

Content type: Poster presentation Published on: 2 November 2015

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Clinical, epidemiological, genetic, and electrophysiological characteristics of transthyretin familial amyloid polyneuropathies in Israel

Authors: Menachem Sadeh, Avi Livneh, Michael Arad and Alexander Lossos

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O5

Content type: Oral presentation Published on: 2 November 2015

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Which assessment for the carriers: the cardiac view

Authors: Arnt V Kristen

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I3

Content type: Invited speaker presentation Published on: 2 November 2015

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The role of complement in ATTR amyloidosis: a new therapeutic avenue?

Authors: Elena Panayiotou, Eleni Fella, Rebecca Papacharalambous, Stavros Malas and Theodore Kyriakides

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P3

Content type: Poster presentation Published on: 2 November 2015

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Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population

Authors: Carolina Lemos, Teresa Coelho, Miguel Alves-Ferreira, Diana Santos, Jorge Sequeiros and Alda Sousa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O3

Content type: Oral presentation Published on: 2 November 2015

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Symptomatic therapy in ATTR amyloidosis: pain killers in TTR-FAP

Authors: Nadine Attal

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I1

Content type: Invited speaker presentation Published on: 2 November 2015

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Novel conformation-specific monoclonal antibodies against amyloidogenic forms of transthyretin

Authors: Jeffrey N Higaki, Avi Chakrabartty, Natalie J Galant, Bradley Hammerson, Ronald Torres, Joshua Salmans, Robin Barbour and Gene G Kinney

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P1

Content type: Poster presentation Published on: 2 November 2015

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TTR-FAP: a single-center experience in Sicily, an Italian endemic area

Authors: Anna Mazzeo, Massimo Russo, Gianluca Di Bella, Fabio Minutoli, Claudia Stancenelli, Luca Gentile, Antonio Toscano and Giuseppe Vita

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O1

Content type: Oral presentation Published on: 2 November 2015

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