A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?

被引：0
|
作者：
Monje, Mariana H. G. [1 ]
Blackburn, Joanna Sarah [2 ]
Kinsley, Lisa [1 ]
Krainc, Dimitri [1 ,3 ]
Mencacci, Niccolo E. [1 ,3 ]
机构：
[1] Northwestern Univ, Feinberg Sch Med, Ken & Ruth Davee Dept Neurol, Chicago, IL 60611 USA
[2] Northwestern Univ, Div Child Neurol, Ann & Robert H Lurie Childrens Hosp Chicago, Feinberg Sch Med, Chicago, IL 60611 USA
[3] Northwestern Univ, Simpson Querrey Ctr Neurogenet, Feinberg Sch Med, Chicago, IL USA
来源：
MOVEMENT DISORDERS | 2024年 / 39卷 / 05期
基金：
美国国家卫生研究院;
关键词：
dystonia; genetic modifier; GNAO1; GNAI1;
D O I：
10.1002/mds.29765
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：918 / 920
页数：3
相关论文
共 50 条
  • [41] Varying Phenotypic Spectrum in Paroxysmal Exercise-Induced Dystonia: A Turkish family with SLC2A1 pathogenic variant
    Gultekin, M.
    Bayramov, R.
    Simsir, G.
    Basak, A. N.
    EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 884 - 884
  • [42] SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
    Luca Marsili
    Jennie L. Davis
    Alberto J. Espay
    Jonathan Gilthorpe
    Chloe Williams
    Marcelo A. Kauffman
    Aleksey Porollo
    The Cerebellum, 2024, 23 : 205 - 209
  • [43] Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation
    Bhattacharjee, Shakya
    Silverdale, Monty A.
    Bonello, Michael
    Evans, Julian
    Kobylecki, Christopher
    TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2023, 13
  • [44] Pathogenic Variant in the 5'-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia
    Li, Yanting
    Li, Mingqiang
    Liu, Lanqing
    Sun, Qiying
    Yang, Guang
    TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2025, 15 : 1 - 8
  • [45] The MT-ND1 m.3460G>A pathogenic variant as a cause of isolated cardiac disease in a 77 year old man
    Koka, Sivan
    Michowitz, Yoav
    Amsalem, Itshak
    Acha, Moshe Rav
    Glikson, Michael
    Lahad, Ephrat
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 147 - 148
  • [46] NOVEL KCNA1 VARIANT ASSOCIATED SYNDROME OF EPISODIC DYSTONIA AND ELECTROPHYSIOLOGIC MYOKYMIA: A CASE REPORT
    Major, Lauren
    Lebel, Robert
    Rothman, Steven
    Sakonju, Ai
    MUSCLE & NERVE, 2022, 66 : S61 - S61
  • [47] Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report
    Alshareet, Mohammed
    Alakkas, Aljoharah
    Alsinaidi, Omar A.
    Bawazeer, Shahad
    Peer-Zada, Abdul Ali
    BMJ NEUROLOGY OPEN, 2024, 6 (01)
  • [48] A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review
    Pepin, Lucie
    Colin, Estelle
    Tessarech, Marine
    Rouleau, Stephanie
    Bouhours-Nouet, Natacha
    Bonneau, Dominique
    Coutant, Regis
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2019, 104 (04): : 985 - 993
  • [49] Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls
    Zech, Michael
    Jochim, Angela
    Boesch, Sylvia
    Weber, Sandrina
    Meindl, Tobias
    Peters, Annette
    Gieger, Christian
    Mueller, Joerg
    Messner, Michael
    Ceballos-Baumann, Andres
    Poewe, Werner
    Haslinger, Bernhard
    Winkelmann, Juliane
    PARKINSONISM & RELATED DISORDERS, 2016, 31 : 119 - 123
  • [50] Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1
    Anim, Manfred
    Sogkas, Georgios
    Schmidt, Gunnar
    Dubrowinskaja, Natalia
    Witte, Torsten
    Schmidt, Reinhold Ernst
    Atschekzei, Faranaz
    FRONTIERS IN IMMUNOLOGY, 2021, 12
12345