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
  • [1] A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
    Mengel, David
    Traschuetz, Andreas
    Reich, Selina
    Leyva-Gutierrez, Alejandra
    Bender, Friedemann
    Hauser, Stefan
    Haack, Tobias B.
    Synofzik, Matthis
    JOURNAL OF NEUROLOGY, 2021, 268 (10) : 3845 - 3851
  • [2] Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant of STUB1
    Choi, Soyoun
    Park, Soo Ryun
    Jang, Ja-Hyun
    Ahn, Jong Hyeon
    JOURNAL OF CLINICAL NEUROLOGY, 2022, 18 (06): : 714 - 716
  • [3] AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA OF ADULT ONSET DUE TO STUB1 MUTATIONS
    Depondt, Chantal
    Donatello, Simona
    Simonis, Nicolas
    Rai, Myriam
    van Heurck, Roxane
    Abramowicz, Marc
    D'Hooghe, Marc
    Pandolfo, Massimo
    NEUROLOGY, 2014, 82 (19) : 1749 - 1750
  • [4] A de novo truncating variant in CSDE1 in an adult-onset neuropsychiatric phenotype without intellectual disability
    Krenn, Martin
    Kepa, Sylvia
    Kasprian, Gregor
    Riedhammer, Korbinian M.
    Wagner, Matias
    Goedl-Fleischhacker, Ursula
    Milenkovic, Ivan
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (03)
  • [5] A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
    Markholt, Sara
    Skaerbaek, Jens
    Munk, Kim
    Andersen, Brian N.
    Lilballe, Dorte L.
    Blechingberg, Jenny
    Petersen, Jesper P.
    V. Bjerre, Jesper
    Gregersen, Pernille A.
    Kyng, Kasper J.
    PROGRESS IN PEDIATRIC CARDIOLOGY, 2024, 75
  • [6] Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia
    Nanetti, Lorenzo
    Magri, Stefania
    Fichera, Mario
    Castaldo, Anna
    Nigri, Anna
    Pinardi, Chiara
    Mongelli, Alessia
    Sarro, Lidia
    Pareyson, Davide
    Grisoli, Marina
    Gellera, Cinzia
    Di Bella, Daniela
    Mariotti, Caterina
    Taroni, Franco
    MOVEMENT DISORDERS, 2023, 38 (04) : 665 - 675
  • [7] Leukodystrophies in Patients with Adult-Onset Ataxia: Frequency and Phenotype
    vom Hagen, Jennifer Mueller
    Synofzik, Matthis
    Schicks, Julia
    Kraegeloh-Mann, Ingeborg
    Schoels, Ludger
    NEUROLOGY, 2012, 78
  • [8] A new heterozygous variant in the STUB1 gene linked to Spinocerebellar Ataxia type 48
    Cruz, D.
    Vicente, B. Nunes
    Guedes, L. Correia
    Sotero, F. Dourado
    Carvalho, V.
    EUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 554 - 554
  • [9] Leukodystrophies in Idiopathic Adult-Onset Ataxia: Frequency and Phenotype in 105 Patients
    vom Hagen, Jennifer Mueller
    Synofzik, Matthis
    Schicks, Julia
    Kraegeloh-Mann, Ingeborg
    Schoels, Ludger
    MOVEMENT DISORDERS, 2013, 28 (14) : 2033 - 2035
  • [10] The role of de novo mutations in adult-onset neurodegenerative disorders
    Gaël Nicolas
    Joris A. Veltman
    Acta Neuropathologica, 2019, 137 : 183 - 207