RECESSIVE PENTANUCLEOTIDE REPEAT EXPANSION IN RFC1 CAUSES CANVAS AND LATE-ONSET SENSORY ATAXIA

被引：0
|
作者：
Cortese, Andrea
Reilly, Mary M.
Houlden, Henry
机构：
[1] UCL Queen Sq Inst Neurol, London, England
[2] Natl Hosp Neurol & Neurosurg, London, England
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2019年 / 90卷 / 12期
关键词：
D O I：
10.1136/jnnp-2019-ABN-2.16
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
15.45
引用
收藏
页码：E12 / E13
页数：2
相关论文
共 50 条
  • [1] CANVAS: the biallelic RFC1 pentanucleotide repeat expansion in Greek late-onset ataxia patients
    Kontogeorgiou, Zoi
    Kartanou, Chrisoula
    Tsirligkani, Chrisanthi
    Anagnostou, Evangelos
    Rentzos, Michail
    Karadima, Georgia
    Koutsis, Georgios
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 269 - 269
  • [2] A recessive repeat expansion causes CANVAS and is a frequent cause of late-onset sensory ataxia
    Cortese, A.
    Simone, R.
    Sullivan, R.
    Vandrovcova, J.
    Yau, W. Y.
    Humphrey, J.
    Jaunmuktane, Z.
    Sivakumar, P.
    Polke, J.
    Tomaselli, P. J.
    Devigili, G.
    Callegari, I.
    Versino, M.
    Salpietro, V.
    Efthymiou, S.
    Kaski, D.
    Wood, N. W.
    Andrade, N. S.
    Rossor, A. M.
    Bronstein, A.
    Fratta, P.
    Marques, W. J.
    Zuchner, S.
    Reilly, M. M.
    Houlden, H.
    EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 82 - 82
  • [3] A RECESSIVE PENTANUCLEOTIDE REPEAT EXPANSION CAUSES CANVAS AND LATEONSET SENSORY ATAXIA
    Cortese, A.
    Simone, R.
    Sullivan, R.
    Vandrovcova, J.
    Tariq, H.
    Yan, Way Y.
    Humphrey, J.
    Jaunmuktane, Z.
    Sivakumar, P.
    Lyas, M.
    Polke, J.
    Tribollet, E.
    Tomaselli, P. J.
    Devigili, G.
    Callegari, I
    Versino, M.
    Salpietro, V
    Efthymiou, S.
    Kaski, D.
    Wood, N.
    Andrade, N.
    Buglo, E.
    Rebelo, A.
    Rossor, A.
    Bronstein, A.
    Fratta, P.
    Marques, W.
    Zuchner, S.
    Reilly, M.
    Houlden, H.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2019, 24 : S16 - S16
  • [4] Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia
    Kontogeorgiou, Zoi
    Kartanou, Chrisoula
    Tsirligkani, Chrysanthi
    Anagnostou, Evangelos
    Rentzos, Michail
    Stefanis, Leonidas
    Karadima, Georgia
    Koutsis, Georgios
    CLINICAL GENETICS, 2021, 100 (01) : 90 - 94
  • [5] A recessive repeat expansion causes CANVAS and is a common cause of Late-Onset Ataxia
    Cortese, A.
    Houlden, H.
    Reilly, M.
    Zuchner, S.
    Marques, W.
    Fratta, P.
    Bronstein, A.
    Rossor, A.
    Rebelo, A.
    Buglo, E.
    Andrade, N.
    Wood, N.
    Kaski, D.
    Efthymiou, S.
    Salpietro, V.
    Versino, M.
    Callegari, I.
    Devigili, D.
    Tomaselli, P.
    Tribollet, E.
    Ilyas, M.
    Polke, J.
    Sivakumar, P.
    Jaunmuktane, Z.
    Humphrey, J.
    Yan, Y.
    Tariq, H.
    Vandrovcova, J.
    Sullivan, R.
    Simone, R.
    MOVEMENT DISORDERS, 2019, 34 : S101 - S101
  • [6] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
    Tsuchiya, Mai
    Nan, Haitian
    Koh, Kishin
    Ichinose, Yuta
    Gao, Lihua
    Shimozono, Keisuke
    Hata, Takanori
    Kim, Yeon-Jeong
    Ohtsuka, Toshihisa
    Cortese, Andrea
    Takiyama, Yoshihisa
    JOURNAL OF HUMAN GENETICS, 2020, 65 (12) : 1143 - 1147
  • [7] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia
    Mai Tsuchiya
    Haitian Nan
    Kishin Koh
    Yuta Ichinose
    Lihua Gao
    Keisuke Shimozono
    Takanori Hata
    Yeon-Jeong Kim
    Toshihisa Ohtsuka
    Andrea Cortese
    Yoshihisa Takiyama
    Journal of Human Genetics, 2020, 65 : 1143 - 1147
  • [8] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
    Andrea Cortese
    Roberto Simone
    Roisin Sullivan
    Jana Vandrovcova
    Huma Tariq
    Wai Yan Yau
    Jack Humphrey
    Zane Jaunmuktane
    Prasanth Sivakumar
    James Polke
    Muhammad Ilyas
    Eloise Tribollet
    Pedro J. Tomaselli
    Grazia Devigili
    Ilaria Callegari
    Maurizio Versino
    Vincenzo Salpietro
    Stephanie Efthymiou
    Diego Kaski
    Nick W. Wood
    Nadja S. Andrade
    Elena Buglo
    Adriana Rebelo
    Alexander M. Rossor
    Adolfo Bronstein
    Pietro Fratta
    Wilson J. Marques
    Stephan Züchner
    Mary M. Reilly
    Henry Houlden
    Nature Genetics, 2019, 51 : 649 - 658
  • [9] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
    Cortese, Andrea
    Simone, Roberto
    Sullivan, Roisin
    Vandrovcova, Jana
    Tariq, Huma
    Yan, Yau Way
    Humphrey, Jack
    Jaunmuktane, Zane
    Sivakumar, Prasanth
    Polke, James
    Ilyas, Muhammad
    Tribollet, Eloise
    Tomaselli, Pedro J.
    Devigili, Grazia
    Callegari, Ilaria
    Versino, Maurizio
    Salpietrol, Vincenzo
    Efthymiou, Stephanie
    Kaski, Diego
    Wood, Nick W.
    Andrade, Nadja S.
    Buglo, Elena
    Rebelo, Adriana
    Rossor, Alexander M.
    Bronstein, Adolfo
    Fratta, Pietro
    Marques, Wilson J.
    Zuchner, Stephan
    Reilly, Mary M.
    Houlden, Henry
    NATURE GENETICS, 2019, 51 (04) : 649 - +
  • [10] Late-onset ataxia due to RFC1 repeat expansion: a multicentric national study
    Malaquias, M.
    Braz, L.
    Damasio, J.
    Garcez, D.
    Marques, B.
    Caetano, A.
    Paula, A.
    Aires, A.
    Velon, A.
    Sousa, L.
    Ramos Alves, M.
    Costa, C.
    Rosado Coelho, C.
    Brandao, E.
    Nadais, G.
    Guimaraes, J.
    Mendes, M.
    Vila Cha, N.
    Abreu, P.
    Castro, P.
    Barbosa, R.
    Taipa, R.
    Araujo, R.
    Pimentel, T.
    Magalhaes, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 366 - 366
12345