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
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 50 条
  • [1] A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms
    Erdi Şahin
    Arman Çakar
    Hacer Durmuş-Tekçe
    Yeşim Parman
    Acta Neurologica Belgica, 2019, 119 : 627 - 628
  • [2] 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
  • [3] Vasculopathy in transthyretin Val30Met familial amyloid polyneuropathy
    Haruki Koike
    Shohei Ikeda
    Mie Takahashi
    Yuichi Kawagashira
    Masahiro Iijima
    Masahisa Katsuno
    Gen Sobue
    Orphanet Journal of Rare Diseases, 10 (Suppl 1)
  • [4] 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
  • [5] First case of Val30Met familial amyloid polyneuropathy in a black African
    Bridel, C.
    Savva, E.
    Magistris, M.
    Morris, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2010, 17 : 606 - 606
  • [6] 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
  • [7] Age-at-Onset variation in Val30Met Familial Amyloid Polyneuropathy: The genetic landscape of TTR
    Alves-Ferreira, Miguel
    Azevedo, Ana
    Coelho, Teresa
    Santos, Diana
    Sequeiros, Jorge
    Alonso, Isabel
    Sousa, Alda
    Lemos, Carolina
    MEDICINE, 2020, 99 (09)
  • [8] Late-Onset Familial Amyloid Polyneuropathy (FAP) Val30Met Without Family History
    Rudolph, Thomas
    Kurz, Martin Wilhelm
    Farbu, Elisabeth
    CLINICAL MEDICINE & RESEARCH, 2008, 6 (02) : 80 - 82
  • [9] First Val30Met transthyretin mutation in a Swiss patient: a case of familial amyloid polyneuropathy
    Rosin, C.
    Morris, M.
    Frank, S.
    Fuhr, P.
    Kappos, L.
    Renaud, S.
    JOURNAL OF NEUROLOGY, 2008, 255 : 76 - 76
  • [10] 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