Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants

被引：0
|
作者：
Revert Barbera, Anna [1 ]
Fernandez Isern, Guerau [2 ]
Dario Ortigoza-Escobar, Juan [3 ,4 ,5 ]
机构：
[1] Hosp Mar Parc Salut Mar, Dept Neurol, Barcelona, Spain
[2] Inst Recerca Sant Joan Deu, Dept Genet & Mol Med IPER, Barcelona, Spain
[3] Inst Salud Carlos III, U 703 Ctr Biomed Res Rare Dis CIBER ER, Barcelona, Spain
[4] Hosp Sant Joan Deu Barcelona, Inst Recerca, Pediat Neurol Dept, Movement Disorders Unit, Barcelona, Spain
[5] European Reference Network Rare Neurol Dis ERN RN, Barcelona, Spain
来源：
MOVEMENT DISORDERS | 2023年 / 38卷 / 06期
关键词：
D O I：
10.1002/mds.29435
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：1118 / 1119
页数：3
相关论文
共 50 条
  • [31] Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
    Paramasivam, Arumugam
    Meena, Angamuthu K.
    Venkatapathi, Challa
    Pitceathly, Robert D. S.
    Thangaraj, Kumarasamy
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2020, 70 (12) : 1962 - 1965
  • [32] Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures
    Arumugam Paramasivam
    Angamuthu K. Meena
    Challa Venkatapathi
    Robert D.S. Pitceathly
    Kumarasamy Thangaraj
    Journal of Molecular Neuroscience, 2020, 70 : 1962 - 1965
  • [33] Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
    Lee, Yun Jeong
    Kim, Soo Yeon
    Kim, Man Jin
    Kim, Ae Ryoung
    Lee, Jong-Mok
    Chae, Jong-Hee
    NEUROMUSCULAR DISORDERS, 2021, 31 (11) : 1194 - 1198
  • [34] Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
    Dahimene, Shehrazade
    von Elsner, Leonie
    Holling, Tess
    Mattas, Lauren S.
    Pickard, Jess
    Lessel, Davor
    Pilch, Kjara S.
    Kadurin, Ivan
    Pratt, Wendy S.
    Zhulin, Igor B.
    Dai, Hongzheng
    Hempel, Maja
    Ruzhnikov, Maura R. Z.
    Kutsche, Kerstin
    Dolphin, Annette C.
    BRAIN, 2022, 145 (08) : 2721 - 2729
  • [35] Biallelic variants of UBA5 reveal that disruption of the UFM1 cascade can result in early-onset encephalopathy
    Colin, E.
    Daniel, J.
    Ziegler, A.
    Wakim, J.
    Scrivo, A.
    Haack, T. B.
    Khiati, S.
    Denomme, A.
    Amati-Bonneau, P.
    Charif, M.
    Procaccio, V.
    Reynier, P.
    Aleck, K. A.
    Botto, L. D.
    Herper, C. L.
    Kaiser, C. S.
    Nabbout, R.
    N'Guyen, S.
    Mora-Lorca, J. A.
    Assmann, B.
    Christ, S.
    Meitinger, T.
    Strom, T. M.
    Prokisch, H.
    Miranda-Vizuete, A.
    Hoffmann, G. F.
    Lenaers, G.
    Bomont, P.
    Liebau, E.
    Bonneau, D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 86 - 87
  • [36] Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants
    Mousa, Jehan
    Veres, Larissa
    Mohamed, Anab
    De Graef, Diederik
    Morava, Eva
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2022, 32
  • [37] Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions
    Harrer, Philip
    Schalk, Audrey
    Shimura, Masaru
    Baer, Sarah
    Calmels, Nadege
    Spitz, Marie Aude
    Warde, Marie-Therese Abi
    Schaefer, Elise
    Kittke, Volker M. Sc
    Dincer, Yasemin
    Wagner, Matias
    Dzinovic, Ivana
    Berutti, Riccardo
    Sato, Tatsuharu
    Shirakawa, Toshihiko
    Okazaki, Yasushi
    Murayama, Kei
    Oexle, Konrad
    Prokisch, Holger
    Mall, Volker
    Melcak, Ivo
    Winkelmann, Juliane
    Zech, Michael
    ANNALS OF NEUROLOGY, 2023, 93 (02) : 330 - 335
  • [38] A case of generalized early-onset dystonia with a novel low-penetrant THAP1 missense variant
    Sarmiento, I. Keller
    Fraint, A.
    Kinsley, L.
    Lubbe, S.
    Mencacci, N.
    Simuni, T.
    Krainc, D.
    MOVEMENT DISORDERS, 2020, 35 : S51 - S51
  • [39] Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene
    Zheng, Yu
    Wong, Lo
    Kwan, Angel Hoi Wan
    Dong, Zirui
    Kwok, Ka Yin
    Choy, Kwong Wai
    Dai, Hongzheng
    Cao, Ye
    PRENATAL DIAGNOSIS, 2024, 44 (02) : 247 - 250
  • [40] Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome
    Golubicki, Mariano
    Bonjoch, Laia
    Acuna-Ochoa, Jose G.
    Diaz-Gay, Marcos
    Munoz, Jenifer
    Cuatrecasas, Miriam
    Ocana, Teresa
    Iseas, Soledad
    Mendez, Guillermo
    Cisterna, Daniel
    Schubert, Stephanie A.
    Nielsen, Maartje
    van Wezel, Tom
    Goldberg, Yael
    Pikarsky, Eli
    Robbio, Juan
    Roca, Enrique
    Castells, Antoni
    Balaguer, Francesc
    Antelo, Marina
    Castellvi-Bel, Sergi
    JCI INSIGHT, 2020, 5 (18)
12345