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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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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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Mass spectrometry analysis of transthyretin (TTR) post-translational modifications (PTMs) in hereditary ATTR: a case-control Spanish experience

Authors: Marta Vilà-Rico, Sebastián Azorín Contesse, José E Barcena Llona, Ricardo Rojas-García, Fernando Martínez Valle, Antoni Planas, Francesc Canals and Josep M Campistol

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P53

Content type: Poster presentation Published on: 2 November 2015

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Parenteral nutrition improves nutritional status, autonomic symptoms and QoL in patients with TTR-FAP

Authors: Massimo Russo, Gianluca Vita, Claudia Stancanelli, Giuseppe Vita, Anna Mazzeo and Sonia Messina

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P52

Content type: Poster presentation Published on: 2 November 2015

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Diagnostic value of fat aspirates for amyloidosis in 950 patients

Authors: JA Gilbertson, NA Botcher, D Rowczenio, C Whelan, HJ Lachmann, A Wechalekar, JD Gillmore and PN Hawkins

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P50

Content type: Poster presentation Published on: 2 November 2015

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Posterior longitudinal strain by speckle tracking echocardiography, marker of cardiac amyloidosis?

Authors: Julien Ternacle, Jean-François Deux, Diane Bodez, Aziz Guellich, Alain Rahmouni, Jean-Luc Dubois-Randé, Violaine Plante-Bordeneuve and Thibaud Damy

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P48

Content type: Poster presentation Published on: 2 November 2015

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MALDI spectrometry for salivary samples analysis : a new tool for TTR amyloidosis diagnosis

Authors: Julie Seguier, Claude Villard, Laurie Anne Maysou, Gilbert Habib, Annie Verschueren, Pauilne Belenotti, Daniel Lafitte and Jacques Serratrice

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P46

Content type: Poster presentation Published on: 2 November 2015

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Cardiac extracellular volume quantified with T1 mapping techniques reflects degree of cardiac and neurological involvement in Hereditary Transthyretin Amyloidosis

Authors: Esther González-López, María Gallego-Delgado, Francisco Muñoz-Beamud, Juan Buades, Lucía Galán, Jose Luis Muñoz Blanco, Jesús González-Mirelis and Pablo García-Pavía

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P44

Content type: Poster presentation Published on: 2 November 2015

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The diagnostic accuracy of Sudoscan in TTR-FAP

Authors: Jose Castro, Isabel Conceicao, Isabel Castro and Mamede de Carvalho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P42

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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[18F]FDDNP performed better than [18F] Florbetapir to distinguish transthyretin cardiac amyloidosis (TTR-CA) patients from healthy controls: an ex vivo study

Authors: Anne-Claire Dupont, Denis Guilloteau, Rana Ben-Azzouna, Rudy Bidault, Vincent Algalarrondo, Michel Slama, Nicolas Arlicot and Dominique Le Guludec

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P38

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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TTR sequencing should be considered ahead of hypertrophic cardiomyopathy in Afro-Americans

Authors: Jean Herlé Raphalen, Mathieu Kerneis, Xavier Waintraub, Riadh Cheikh-Khelifa, PIerre Fouret, Philippe Cluzel, Zahir Amoura and Fleur Cohen Aubart

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P35

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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Do we need to demonstrate amyloid in tissue for hereditary ATTR amyloidosis ?

Authors: Per Westermark

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I25

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

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Therapeutic education programme in TTR-FAP

Authors: Marie Théaudin, Cécile Cauquil, Teresa Antonini, Vincent Algalarrondo, Céline Labeyrie, Sophie Aycaguer, Marie Kubezyk, Colombe Lemoine, Géraldine Nonnez, Agnès Morier, Nadia Kouchi, Amandine Darras, Nathalie Coste, Mireille Clément and David Adams

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I24

Content type: Invited speaker 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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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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Phase 2 open-label extention (OLE) study of patisiran, an investigational siRNA agent for familial amyloidotic polyneuropathy (FAP)

Authors: David Adams, Ole B Suhr, Isabel Conceicao, Marcia Waddington-Cruz, Hartmut Schmidt, Juan Buades, Josep Campistol and Teresa Coehlo

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O20

Content type: Oral 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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Multi-modality imaging in cardiac ATTR amyloidosis: agreement between echocardiography, MRI and DPD-scintigraphy

Authors: Ludivine Eliahou, Renata Chequer, Phalla Ou, Vincent Algalarrondo, Teresa Antonini, Michel Slama, Dominique Le Guludec and François Rouzet

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O17

Content type: Oral 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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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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Neuroprotection of Anakinra on peripheral nerve neurodegeneration in single and combination protocols with TTR siRNA in a transgenic mouse model for human V30M transthyretin

Authors: Maria João Saraiva, Paula Gonçalves, Diana Martins and Nádia Pereira Gonçalves

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P13

Content type: Poster 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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The landscape of treatment of chronic kidney disease in hereditary ATTR amyloidosis

Authors: Luisa Lobato

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I12

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

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Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy

Authors: Haruki Koike, Shohei Ikeda, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno and Gen Sobue

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):O11

Content type: Oral presentation Published on: 2 November 2015

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Tafamidis reduces disease progression in patients with transthyretin familial amyloid polyneuropathy: supportive post-hoc analyses of a pivotal trial

Authors: Denis Keohane, Jeffrey Schwartz, Balarama Gundapaneni, Michelle Stewart and Leslie Amass

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P11

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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SOM0226, a repositioned compound for the treatment of TTR amyloidosis

Authors: Núria Reig, Salvador Ventura, Maria Salvadó, Josep Gámez and Raúl Insa

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P9

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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Which assessment for the carriers ? The point of view of the neurologist

Authors: Isabel Conceicão

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I7

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

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Treatment of transthyretin (TTR) amyloid cardiomyopathy with an antisense oligonucleotide inhibitor of TTR synthesis

Authors: Merrill D Benson, Elizabeth J Ackermann and Brett P Monia

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):P7

Content type: Poster presentation Published on: 2 November 2015

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Preimplantation genetic diagnosis for TTR-FAP in Portugal

Authors: Filipa Carvalho

Citation: Orphanet Journal of Rare Diseases 2015 10(Suppl 1):I5

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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