Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP)

被引:1
|
作者
Ikeda, K.
Kano, O.
Ito, H.
Kawase, Y.
Iwamoto, K.
Sato, R.
Sekine, T.
Nagata, R.
Nakamura, Y.
Hirayama, T.
Iwasaki, Y.
机构
关键词
D O I
10.1212/01.wnl.0000317143.41209.fd
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1576 / 1576
页数:1
相关论文
共 50 条
  • [31] Long term effects of tafamidis treatment on transthyretin familial amyloid polyneuropathy (TTR-FAP): interim results from the Fx1A-303 study
    Coelho, T.
    Conceicao, I. M.
    Barroso, F.
    Waddington-Cruz, M.
    Schmidt, H. H. -J.
    Rosas, G.
    Mandel, F. S.
    Stewart, M.
    Huertas, P.
    Karayal, O. N.
    JOURNAL OF NEUROLOGY, 2014, 261 : S59 - S60
  • [32] Intergenerational relations matter: exploring health-related roles in families with transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and Huntington disease (HD)
    Oliveira, Carla
    Mendes, Alvaro
    Sequeiros, Jorge
    Sousa, Liliana
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 331 - 331
  • [33] Long term effects of tafamidis treatment on transthyretin familial amyloid polyneuropathy (TTR-FAP): interim results from the Fx1A-303 study
    Coelho, T.
    Conceicao, I. M.
    Barroso, F.
    Waddington-Cruz, M.
    Schmidt, H. H. -J.
    Rosas, G.
    Mandel, F. S.
    Stewart, M.
    Huertas, P.
    Karayal, O. N.
    EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 81 - 81
  • [34] Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE)
    Gorram, Farida
    Alarcon, Flora
    Perdry, Herve
    Hebrard, Berenice
    Damy, Thibaud
    Fanen, Pascale
    Funalot, Benoit
    Nuel, Gregory
    Plante-Bordeneuve, Violaine
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2017, 24 : 115 - 116
  • [35] Secondary Glaucoma in transthyretin (TTR)-related Familial Amyloid Polyneuropathy
    Rousseau, Antoine
    Barreau, Emmanuel
    Kaswin, Godefroy
    Mgarrech, Mohamed
    Theaudin, Marie
    Cauquil, Cecile
    Adams, David
    Labetoulle, Marc
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [36] DIAGNOSTIC PITFALLS IN TRANSTHYRETIN-RELATED FAMILIAL AMYLOID POLYNEUROPATHIES (TTR-FAPS)
    Cappellari, M.
    Ferrrarini, M.
    Taioli, F.
    Cavallaro, T.
    Ferrari, S.
    Rizzuto, N.
    Fabrizi, G. M.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 27 - 28
  • [37] The diagnostic accuracy of Sudoscan in TTR-FAP
    Jose Castro
    Isabel Conceicao
    Isabel Castro
    Mamede de Carvalho
    Orphanet Journal of Rare Diseases, 10 (Suppl 1)
  • [38] An autopsy case of familial amyloid polyneuropathy (FAP) with novel transthyretin (TTR) mutation (LYS80ARG)
    Miyamoto, Y.
    Yamashita, T.
    Morita, Y.
    Furuta, K.
    Osaki, Y.
    Ueda, M.
    Maeda, N.
    Iwaki, T.
    Ando, Y.
    Furuya, H.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 381 : 844 - 844
  • [39] Clinical and laboratory test in patients with familial amyloid polyneuropathy (TTR-FAP): differences between symptomatic patients and asymptomatic carriers
    Raya-Cruz, Manuel
    Buades-Reines, Juan
    Gallego-Lezaun, Cristina
    Ripoll-Vera, Tomas
    Usnon-Martin, Mercedes
    MEDICINA BALEAR, 2015, 30 (03): : 33 - 38
  • [40] Neuropathic pain and small-fiber related symptoms in late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP): A clinical, neurophysiological and skin biopsy study
    Falco, Pietro
    Galosi, Eleonora
    Leonardi, Luca
    Fasolino, Alessandra
    Di Pietro, Giuseppe
    De Stefano, Gianfranco
    Di Lionardo, Andrea
    Antonini, Giovanni
    Truini, Andrea
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429