Clinical and pathological characterization of RFC1 AAGGG expansion presenting as chronic axonal polyneuropathy

被引：0
|
作者：
Tagliapietra, Matteo [1 ]
Cardellini, Davide [1 ]
Ferrarini, Moreno [1 ]
Testi, Silvia [1 ]
Ferrari, Sergio [1 ]
Monaco, Salvatore [1 ]
Cavallaro, Tiziana [1 ]
Fabrizi, Gian Maria [1 ]
机构：
[1] Univ Verona, Dept Neurosci Biomed & Movement Sci, Verona, Italy
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2021年 / 429卷
关键词：
D O I：
10.1016/j.jns.2021.117739
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
117739
引用
收藏
页数：1
相关论文
共 50 条
  • [1] RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
    Tagliapietra, Matteo
    Cardellini, Davide
    Ferrarini, Moreno
    Testi, Silvia
    Ferrari, Sergio
    Monaco, Salvatore
    Cavallaro, Tiziana
    Fabrizi, Gian Maria
    JOURNAL OF NEUROLOGY, 2021, 268 (11) : 4280 - 4290
  • [2] RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy
    Matteo Tagliapietra
    Davide Cardellini
    Moreno Ferrarini
    Silvia Testi
    Sergio Ferrari
    Salvatore Monaco
    Tiziana Cavallaro
    Gian Maria Fabrizi
    Journal of Neurology, 2021, 268 : 4280 - 4290
  • [3] RFC1 CANVAS: pathogenic AAGGG repeat expansion frequency - CGC Genetics Unilabs overview
    Lameiras, Ligia
    Silva, Tiago
    Teixeira, Marisa
    Salgado, Isa
    Cerqueira, Rita
    Sa, Joaquim
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 213 - 214
  • [4] Biallelic Replication Factor C subunit 1 (RFC1) repeat expansion mutation is highly frequent in sensory Chronic Idiopathic Axonal Polyneuropathy
    Tagliapietra, Matteo
    Cardellini, Davide
    Ferrarini, Moreno
    Testi, Silvia
    Ferrari, Sergio
    Monaco, Salvatore
    Cavallaro, Tiziana
    Fabrizi, Gian Maria
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 328 - 329
  • [5] Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease
    Korpioja, Anita
    Kruger, Johanna
    Hurme-Niiranen, Anri
    Solje, Eino
    Katisko, Kasper
    Lipponen, Joonas
    Lehtilahti, Maria
    Remes, Anne M.
    Majamaa, Kari
    Kytovuori, Laura
    PARKINSONISM & RELATED DISORDERS, 2022, 103 : 98 - 101
  • [6] No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA
    Fan, Yu
    Zhang, Shuo
    Yang, Jing
    Mao, Cheng-yuan
    Yang, Zhi-hua
    Hu, Zheng-wei
    Wang, Yan-lin
    Liu, Yu-tao
    Liu, Han
    Yuan, Yan-peng
    Shi, Chang-he
    Xu, Yu-ming
    PARKINSONISM & RELATED DISORDERS, 2020, 73 : 1 - 2
  • [7] INVESTIGATING LOSS OF REPLICATION FACTOR COMPLEX SUBUNIT 1 (RFC1) FUNCTION IN CANVAS PATIENTS AND HETEROZYGOUS AAGGG EXPANSION CARRIERS
    Curro, Riccardo
    Dominik, Natalia
    Perini, Cecilia
    Facchini, Stefano
    Ronco, Riccardo
    Rugginini, Bianca
    Ghia, Arianna
    Schnekenberg, Ricardo P.
    Abati, Elena
    Grupelli, Glenda Paola
    Simone, Roberto
    Jaunmuktane, Zane
    Clark, Alex J.
    Velasco, Roser
    Moyano, Maria S.
    Gutierrez-Gutierrez, Gerardo
    Alberti, Paola
    Thomas, Simone
    Hoke, Ahmet
    Reilly, Mary M.
    Houlden, Henry
    Bennett, David L.
    Cavaletti, Guido
    Argyriou, Andreas A.
    Bruna, Jordi
    Briani, Chiara
    Jepson, James
    Crespan, Emmanuele
    Cortese, Andrea
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 : S156 - S156
  • [8] INVESTIGATING LOSS OF REPLICATION FACTOR COMPLEX SUBUNIT 1 (RFC1) FUNCTION IN CANVAS PATIENTS AND HETEROZYGOUS AAGGG EXPANSION CARRIERS
    Curro, Riccardo
    Dominik, Natalia
    Perini, Cecilia
    Facchini, Stefano
    Ronco, Riccardo
    Rugginini, Bianca
    Ghia, Arianna
    Schnekenberg, Ricardo P.
    Abati, Elena
    Grupelli, Glenda P.
    Simone, Roberto
    Jaunmuktane, Zane
    Clark, Alex J.
    Velasco, Roser
    Moyano, Maria S.
    Gutierrez-Gutierrez, Gerardo
    Alberti, Paola
    Thomas, Simone
    Hoke, Ahmet
    Reilly, Mary M.
    Houlden, Henry
    Bennett, David L.
    Cavaletti, Guido
    Argyriou, Andreas A.
    Bruna, Jordi
    Briani, Chiara
    Jepson, James
    Crespan, Emmanuele
    Cortese, Andrea
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 : S16 - S16
  • [9] Prevalence of RFC1 gene expansion in multiple sclerosis
    Giordano, Antonino
    Visentin, Giulia
    Scire, Sara
    Bellantuono, Giuseppe
    Sorosina, Melissa
    Mascia, Elisabetta
    Misra, Kaalindi
    Carrera, Paola
    Filippi, Massimo
    Esposito, Federica
    MULTIPLE SCLEROSIS JOURNAL, 2024, 30 (03) : 221 - 221
  • [10] Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes
    Gisatulin, Maria
    Dobricic, Valerija
    Zuehlke, Christine
    Hellenbroich, Yorck
    Tadic, Vera
    Muenchau, Alexander
    Isenhardt, Klaus
    Buerk, Katrin
    Bahlo, Melanie
    Lockhart, Paul J.
    Lohmann, Katja
    Helmchen, Christoph
    Brueggemann, Norbert
    NEUROLOGY, 2020, 95 (21) : E2912 - E2923
12345