A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms

被引：1
|
作者：
Sahin, Erdi [1 ]
Cakar, Arman [1 ]
Durmus-Tekce, Hacer [1 ]
Parman, Yesim [1 ]
机构：
[1] Istanbul Univ, Istanbul Fac Med, Dept Neurol, Millet Cad, TR-34093 Istanbul, Turkey
来源：
ACTA NEUROLOGICA BELGICA | 2019年 / 119卷 / 04期
关键词：
TTR-FAP; TRANSTHYRETIN;
D O I：
10.1007/s13760-018-0959-z
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：627 / 628
页数：2
相关论文
共 36 条
  • [1] Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis
    Koike, Haruki
    Hashimoto, Rina
    Tomita, Minoru
    Kawagashira, Yuichi
    Iijima, Masahiro
    Tanaka, Fumiaki
    Sobue, Gen
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2011, 18 (02): : 53 - 62
  • [2] On the origin of the transthyretin Val30Met familial amyloid polyneuropathy
    Zaros, C.
    Genin, E.
    Hellman, U.
    Saporta, M. A.
    Languille, L.
    Wadington-Cruz, M.
    Suhr, O.
    Misrahi, M.
    Plante-Bordeneuve, V.
    ANNALS OF HUMAN GENETICS, 2008, 72 : 478 - 484
  • [3] Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy
    Tojo, Kana
    Tsuchiya-Suzuki, Ayako
    Sekijima, Yoshiki
    Morita, Hiroshi
    Sumita, Naoko
    Ikeda, Shu-Ichi
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2010, 17 (01): : 32 - 35
  • [4] Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population
    Hellman, Urban
    Alarcon, Flora
    Lundgren, Hans-Erik
    Suhr, Ole B.
    Bonaiti-Pellie, Catherine
    Plante-Bordeneuve, Violaine
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2008, 15 (03): : 181 - 186
  • [5] The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy
    Koike, Haruki
    Morozumi, Saori
    Kawagashira, Yuichi
    Iijima, Masahiro
    Yamamoto, Masahiko
    Hattori, Naoki
    Tanaka, Fumiaki
    Nakamura, Tomohiko
    Hirayama, Masaaki
    Ando, Yukio
    Ikeda, Shu-Ichi
    Sobue, Gen
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2009, 16 (03): : 142 - 148
  • [6] Distinct characteristics of amyloid deposits in early- and late-onset transthyretin Val30Met familial amyloid polyneuropathy
    Koike, Haruki
    Ando, Yukio
    Ueda, Mitsuharu
    Kawagashira, Yuichi
    Iijima, Masahiro
    Fujitake, Junko
    Hayashi, Michiyuki
    Yamamoto, Masahiko
    Mukai, Eiichiro
    Nakamura, Tomohiko
    Katsuno, Masahisa
    Hattori, Naoki
    Sobue, Gen
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 287 (1-2) : 178 - 184
  • [7] Cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy
    Haruki Koike
    Tomohiko Nakamura
    Atsushi Hashizume
    Ryoji Nishi
    Shohei Ikeda
    Yuichi Kawagashira
    Masahiro Iijima
    Masahisa Katsuno
    Gen Sobue
    Journal of Neurology, 2017, 264 : 2293 - 2302
  • [8] Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy
    Gundapaneni, B. K.
    Sultan, M. B.
    Keohane, D. J.
    Schwartz, J. H.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 (03) : 464 - 468
  • [9] Cardiac and peripheral vasomotor autonomic functions in late-onset transthyretin Val30Met familial amyloid polyneuropathy
    Koike, Haruki
    Nakamura, Tomohiko
    Hashizume, Atsushi
    Nishi, Ryoji
    Ikeda, Shohei
    Kawagashira, Yuichi
    Iijima, Masahiro
    Katsuno, Masahisa
    Sobue, Gen
    JOURNAL OF NEUROLOGY, 2017, 264 (11) : 2293 - 2302
  • [10] Clinicopathological correlations of sural nerve biopsies in TTR Val30Met familial amyloid polyneuropathy
    Fernandes, Armindo
    Coelho, Teresa
    Rodrigues, Aurora
    Felgueiras, Helena
    Oliveira, Pedro
    Guimaraes, Antonio
    Melo-Pires, Manuel
    Taipa, Ricardo
    BRAIN COMMUNICATIONS, 2019, 1 (01)
1234