A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

被引:0
|
作者
David Mengel
Andreas Traschütz
Selina Reich
Alejandra Leyva-Gutiérrez
Friedemann Bender
Stefan Hauser
Tobias B. Haack
Matthis Synofzik
机构
[1] University of Tübingen,Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research
[2] German Centre for Neurodegenerative Diseases (DZNE),Institute of Medical Genetics and Applied Genomics
[3] University of Tübingen,Centre for Rare Diseases
[4] University of Tübingen,undefined
来源
Journal of Neurology | 2021年 / 268卷
关键词
STUB1; CHIP; Ataxia; Dominant; Early-onset ataxia; SCA48;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:3845 / 3851
页数:6
相关论文
共 50 条
  • [21] Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
    Matthis Synofzik
    Rebecca Schüle
    Martin Schulze
    Janina Gburek-Augustat
    Roland Schweizer
    Anja Schirmacher
    Ingeborg Krägeloh-Mann
    Michael Gonzalez
    Peter Young
    Stephan Züchner
    Ludger Schöls
    Peter Bauer
    Orphanet Journal of Rare Diseases, 9
  • [22] A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia
    Schoggl, Johanna
    Siegert, Sandy
    Boltshauser, Eugen
    Freilinger, Michael
    Schmidt, Wolfgang M.
    MOVEMENT DISORDERS, 2022, 37 (08) : 1774 - 1776
  • [23] HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
    Roos, Andreas
    Haeusler, Martin
    Kollipara, Laxmikanth
    Topf, Ana
    Preusse, Corinna
    Stucka, Rolf
    Nolte, Kay
    Strom, Tim
    Berutti, Riccardo
    Jiang, Xuehui
    Koll, Randi
    Lochmueller, Hanns
    Schacht, Sabine Maria
    Zahedi, Rene P.
    Weis, Joachim
    Senderekh, Jan
    JOURNAL OF NEUROMUSCULAR DISEASES, 2024, 11 (05) : 1131 - 1137
  • [24] Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
    Synofzik, Matthis
    Schuele, Rebecca
    Schulze, Martin
    Gburek-Augustat, Janina
    Schweizer, Roland
    Schirmacher, Anja
    Kraegeloh-Mann, Ingeborg
    Gonzalez, Michael
    Young, Peter
    Zuechner, Stephan
    Schoels, Ludger
    Bauer, Peter
    ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
  • [25] Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor
    Gass, Jennifer M.
    Cheema, Anvir
    Jackson, Jessica
    Blackburn, Patrick R.
    Van Gerpen, Jay
    Atwal, Paldeep S.
    NEUROLOGIST, 2017, 22 (06) : 247 - 248
  • [26] MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia
    Thorvaldsson, Alexander
    Qureshi, Pir Abdul Ahad Aziz
    Bollineni, Vikram Rao
    JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY, 2022, 106 (01):
  • [27] A novel variant in CACNA1G is associated with early onset cerebellar ataxia
    Bartholdi, D.
    Meier, S.
    Joncourt, F.
    Gallati, S.
    Steinlin, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 254 - 254
  • [28] Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy
    Mancini, C.
    Giorgio, E.
    Rubegni, A.
    Pradotto, L.
    Bagnoli, S.
    Rubino, E.
    Prontera, P.
    Cavalieri, S.
    Di Gregorio, E.
    Ferrero, M.
    Pozzi, E.
    Riberi, E.
    Ferrero, P.
    Nigro, P.
    Mauro, A.
    Zibetti, M.
    Tessa, A.
    Barghigiani, M.
    Antenora, A.
    Sirchia, F.
    Piacentini, S.
    Silvestri, G.
    De Michele, G.
    Filla, A.
    Orsi, L.
    Santorelli, F. M.
    Brusco, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 (01) : 80 - 86
  • [29] Palatal tremor and ataxia associated with sporadic adult-onset Alexander's disease
    Jodoin, N.
    Vandendries, C.
    Grabli, D.
    Bruneteau, G.
    Rodriguez, D.
    MOVEMENT DISORDERS, 2007, 22 : S295 - S295
  • [30] A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia
    Kim, Jinhee
    Kim, Ilsoo
    Koh, Seong-Beom
    PARKINSONISM & RELATED DISORDERS, 2021, 87 : 135 - 136