Genetic screening for transthyretin familial amyloid polyneuropathy to avoid misdiagnosis in patients with polyneuropathy associated with high protein in the cerebrospinal fluid

被引:1
|
作者
Lorenzoni, Paulo Jose [1 ]
Giugno, Vinicius Riegel [1 ]
Ducci, Renata Dal-Pra [1 ]
Werneck, Lineu Cesar [1 ]
Kay, Claudia Suemi Kamoi [1 ]
Scola, Rosana Herminia [1 ]
机构
[1] Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Serv Neuromuscular Disorders,Div Neurol, BR-80060900 Curitiba, Brazil
关键词
Cerebrospinal fluid; Neuropathy; Transthyretin; Familial amyloid polyneuropathy; HEREDITARY;
D O I
10.1007/s13760-023-02215-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:1655 / 1657
页数:3
相关论文
共 50 条
  • [21] A NEW MUTANT TRANSTHYRETIN (ARG-10) ASSOCIATED WITH FAMILIAL AMYLOID POLYNEUROPATHY
    UEMICHI, T
    MURRELL, JR
    ZELDENRUST, S
    BENSON, MD
    JOURNAL OF MEDICAL GENETICS, 1992, 29 (12) : 888 - 891
  • [22] Transthyretin-associated familial Amyloid Polyneuropathy When it is important to think about it
    Niemietz, Christoph
    Roecken, Christoph
    Schilling, Matthias
    Stypman, Jorg
    Uhlig, Constantin E.
    Schmidt, Hartmut H. -J.
    DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 2018, 143 (06) : 427 - 430
  • [23] A NEW TRANSTHYRETIN VARIANT (SER-24) ASSOCIATED WITH FAMILIAL AMYLOID POLYNEUROPATHY
    UEMICHI, T
    GERTZ, MA
    BENSON, MD
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (04) : 279 - 281
  • [24] Familial amyloid polyneuropathy associated with the transthyretin CYS 114 gene in a Russian kindred
    Strokov, I. A.
    Diukova, G. M.
    Pogromov, A. P.
    Generozov, E. V.
    Zhadin, M.
    Kovalchuk, M. O.
    EUROPEAN JOURNAL OF NEUROLOGY, 2007, 14 : 270 - 271
  • [25] Transthyretin mutation (Serine 84) associated with familial amyloid polyneuropathy in a Hungarian family
    Zolyomi, Z
    Benson, MD
    Halasz, K
    Uemichi, T
    Fekete, G
    AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1998, 5 (01): : 30 - 34
  • [26] Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan - Clinicopathological and genetic features
    Misu, K
    Hattori, N
    Nagamatsu, M
    Ikeda, S
    Ando, Y
    Nakazato, M
    Takei, Y
    Hanyu, N
    Usui, Y
    Tanaka, F
    Harada, T
    Inukai, A
    Hashizume, Y
    Sobue, G
    BRAIN, 1999, 122 : 1951 - 1962
  • [27] LIVER TRANSPLANTATION IN PATIENTS WITH FAMILIAL AMYLOID POLYNEUROPATHY: COMPARISON OF DIFFERENT TRANSTHYRETIN MUTATIONS
    Barreiros, A. P.
    Hoppe-Lotichius, M.
    Post, F.
    Theis, C.
    Geber, C.
    Birklein, F.
    Galle, P.
    Otto, G.
    JOURNAL OF HEPATOLOGY, 2012, 56 : S76 - S77
  • [28] A selective transthyretin-adsorption column for the treatment of patients with familial amyloid polyneuropathy
    Tokuda, T
    Kondo, T
    Hanaoka, N
    Takei, Y
    Kametani, F
    Yamada, Y
    Tamura, Y
    Yoshida, M
    Yamawaki, N
    Ikeda, S
    AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1998, 5 (02): : 111 - 116
  • [29] Liver Transplantation in Patients with Familial Amyloid Polyneuropathy: Comparison of Different Transthyretin Mutations
    Barreiros, A. P.
    Hoppe-Lotichius, M.
    Post, F.
    Theis, C.
    Geber, C.
    Birklein, F.
    Galle, P.
    Otto, G.
    TRANSPLANTATION, 2012, 94 (10) : 422 - 422
  • [30] GENETIC EPIDEMIOLOGY OF TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY IN A BRAZILIAN TERTIARY CENTER OF PERIPHERAL NEUROPATHIES
    Lavigne-Moreira, C.
    Barreira, A. A.
    Nunes, J. C.
    Nascimento, O. J. M.
    Marques, V. D.
    Dos Santos, A. C. J.
    Onofre, P. T. B. N.
    Goncalves, M. V. M.
    Marques Jr, W.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 274 - 274