Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

被引：9
|
作者：
Van Daele, Sien Hilde [1 ,2 ,3 ,4 ]
Vermeer, Sascha [5 ]
Van Eesbeeck, Amelie [5 ]
Lannoo, Laura [1 ]
Race, Valerie [5 ]
van Damme, Philip [1 ,2 ,3 ,4 ]
Claeys, Kristl [1 ,2 ,3 ]
Vandenberghe, Wim [1 ,2 ,3 ]
机构：
[1] Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium
[2] Katholieke Univ Leuven, Dept Neurosci, Leuven, Flanders, Belgium
[3] Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Flanders, Belgium
[4] VIB, Ctr Brain & Dis Res, Leuven, Flanders, Belgium
[5] Univ Hosp Leuven, Ctr Human Genet, Leuven, Flanders, Belgium
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2020年 / 91卷 / 11期
关键词：
cerebellar ataxia; neuropathy; cerebellar degeneration; genetics;
D O I：
10.1136/jnnp-2020-323998
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：1233 / 1234
页数：2
相关论文
共 50 条
  • [21] RECESSIVE PENTANUCLEOTIDE REPEAT EXPANSION IN RFC1 CAUSES CANVAS AND LATE-ONSET SENSORY ATAXIA
    Cortese, Andrea
    Reilly, Mary M.
    Houlden, Henry
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2019, 90 (12): : E12 - E13
  • [22] A novel RFC1 repeat motif (ACGGG) in a patient with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
    Thomsen, M.
    Borsche, M.
    Hinrichs, F.
    Helmchen, C.
    Brueggemann, N.
    Lohmann, K.
    MOVEMENT DISORDERS, 2022, 37 : S217 - S218
  • [23] Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
    Saffie Awad, Paula
    Lohmann, Katja
    Hirmas, Yasmin
    Hinrichs, Frauke
    Thomsen, Mirja
    Kauffman, Marcelo
    Lueth, Theresa
    Trinh, Joanne
    Westenberger, Ana
    Chana-Cuevas, Pedro
    Klein, Christine
    MOVEMENT DISORDERS, 2023, 38 (06) : 1107 - 1109
  • [24] Patients with Cerebellar Ataxia, Vestibular Areflexia and Neuronopathy Syndrome (CANVAS) of Polynesian ancestry have a novel conformation of their RFC1 repeat.
    Beecroft, S.
    Cortese, A.
    Sullivan, R.
    Yau, W. Y.
    Dyer, Z.
    Wu, T.
    Mulroy, E.
    Pelosi, L.
    Rodrigues, M.
    Taylor, R.
    Mossman, S.
    Leadbetter, R.
    Cleland, J.
    Anderson, T.
    Ravenscroftl, G.
    Laing', N.
    Houlden, H.
    Reilly, M. M.
    Roxburgh, R.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 369 - 369
  • [25] Author Correction: 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 : 920 - 920
  • [26] Frequency of carrier of AAGGG repeat expansions in RFC1 gene in patients with sensorial peripheral neuropathy.
    Fenollar-Cortes, Maria
    Cotarelo-Perez, Carmen
    Oancea-Ionescu, Raluca
    Horga, Alejandro
    Guerrero-Sola, Antonio
    Galan-Davila, Lucia
    Herrero-Forte, Clara
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 320 - 321
  • [27] RFC1 intronic repeat expansion in Serbian patients with sporadic and seemingly autosomal recessive cerebellar ataxias
    Milovanovic, A.
    Miskovic, N. Dragasevic
    Borsche, M.
    Hinrichs, F.
    Thomsen, M.
    Westenberger, A.
    Lohmann, K.
    Klein, C.
    Kostic, V.
    Brueggemann, N.
    EUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 618 - 618
  • [28] CANVAS syndrome and related phenotypes: A single-centre study of Spanish patients with RFC1 repeat expansions
    Gajate, Vicente
    Fenollar, Maria
    Herrero, Clara
    Oancea, Raluca
    Cotarelo, Carmen
    Yus, Miguel
    Montalvo, Teresa
    Galan, Lucia
    Guerrero, Antonio
    Horga, Alejandro
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 541 - 542
  • [29] Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion
    Kermorvant, Hugo
    Debs, Rabab
    Maisonobe, Thierry
    Huin, Vincent
    Stojkovic, Tanya
    Lenglet, Timothee
    CLINICAL NEUROPHYSIOLOGY, 2022, 134 : 34 - 36
  • [30] Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (vol 51, pg 649, 2019)
    Cortese, Andrea
    Simone, Roberto
    Sullivan, Roisin
    Vandrovcova, Jana
    Tariq, Huma
    Yau, Wai Yan
    Humphrey, Jack
    Jaunmuktane, Zane
    Sivakumar, Prasanth
    Polke, James
    Ilyas, Muhammad
    Tribollet, Eloise
    Tomaselli, Pedro J.
    Devigili, Grazia
    Callegari, Ilaria
    Versino, Maurizio
    Salpietro, 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 (05) : 920 - 920
12345