Late-Onset Dystonia With THAP1 Mutation (DYT6) in South Korea: A Case Report and Literature Review

被引:0
作者
Chang, Hee Jin [1 ]
Woo, Kyung Ah [1 ]
Kim, Han-Joon [1 ]
Jeon, Beomseok [1 ,2 ]
机构
[1] Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Neurol, Seoul, South Korea
[2] Seoul Natl Univ, Seoul Natl Univ Hosp, Coll Med, Dept Neurol, 101 Daehak ro, Seoul 03080, South Korea
来源
JOURNAL OF CLINICAL NEUROLOGY | 2023年 / 19卷 / 02期
关键词
SEQUENCE VARIANTS; GENE;
D O I
10.3988/jcn.2022.0241
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:198 / 200
页数:3
相关论文
共 10 条
[1]   Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families [J].
Almasy, L ;
Bressman, SB ;
Raymond, D ;
Kramer, PL ;
Greene, PE ;
Heiman, GA ;
Ford, B ;
Yount, J ;
deLeon, D ;
Chouinard, S ;
SaundersPullman, R ;
Brin, MF ;
Kapoor, RP ;
Jones, AC ;
Shen, H ;
Fahn, S ;
Risch, NJ ;
Nygaard, TG .
ANNALS OF NEUROLOGY, 1997, 42 (04) :670-673
[2]   Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement [J].
Danielsson, Annika ;
Carecchio, Miryam ;
Cif, Laura ;
Koy, Anne ;
Lin, Jean-Pierre ;
Solders, Goran ;
Romito, Luigi ;
Lohmann, Katja ;
Garavaglia, Barbara ;
Reale, Chiara ;
Zorzi, Giovanna ;
Nardocci, Nardo ;
Coubes, Philippe ;
Gonzalez, Victoria ;
Roubertie, Agathe ;
Collod-Beroud, Gwenaelle ;
Lind, Goran ;
Tedroff, Kristina .
JOURNAL OF CLINICAL MEDICINE, 2019, 8 (12)
[3]   Mutation screening of the DYT6/THAP1 gene in Serbian patients with primary dystonia [J].
Dobricic, Valerija S. ;
Kresojevic, Nikola D. ;
Svetel, Marina V. ;
Jankovic, Milena Z. ;
Petrovic, Igor N. ;
Tomic, Aleksandra D. ;
Novakovic, Ivana V. ;
Kostic, Vladimir S. .
JOURNAL OF NEUROLOGY, 2013, 260 (04) :1037-1042
[4]   Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia [J].
Fuchs, Tania ;
Gavarini, Sophie ;
Saunders-Pullman, Rachel ;
Raymond, Deborah ;
Ehrlich, Michelle E. ;
Bressman, Susan B. ;
Ozelius, Laurie J. .
NATURE GENETICS, 2009, 41 (03) :286-288
[5]   DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation [J].
Groen, Justus L. ;
Ritz, Katja ;
Contarino, Maria Fiorella ;
van de Warrenburg, Bart P. ;
Aramideh, Majid ;
Foncke, Elisabeth M. ;
van Hilten, Jacobus J. ;
Schuurman, P. Richard ;
Speelman, Johannes D. ;
Koelman, Johannes H. ;
de Bie, Rob M. A. ;
Baas, Frank ;
Tijssen, Marina A. .
MOVEMENT DISORDERS, 2010, 25 (14) :2420-2427
[6]   Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India [J].
Holla, Vikram Venkappayya ;
Prasad, Shweta ;
Neeraja, Koti ;
Kamble, Nitish ;
Yadav, Ravi ;
Pal, Pramod Kumar .
PARKINSONISM & RELATED DISORDERS, 2020, 78 :36-37
[7]   THAP1 mutations (DYT6) are an additional cause of early-onset dystonia [J].
Houlden, H. ;
Schneider, S. A. ;
Paudel, R. ;
Melchers, A. ;
Schwingenschuh, P. ;
Edwards, M. ;
Hardy, J. ;
Bhatia, K. P. .
NEUROLOGY, 2010, 74 (10) :846-850
[8]   Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice [J].
Millar Vernetti, Patricio ;
Ruiz Yanzi, Maria Agustina ;
Rossi, Malco ;
Merello, Marcelo .
TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2022, 12
[9]   Prevalence of THAP1 Sequence Variants in German Patients with Primary Dystonia [J].
Soehn, Anne S. ;
Gloeckle, Nicola ;
Doetzer, Andrea Duarte ;
Deuschl, Guenther ;
Felbor, Ute ;
Topka, Helge R. ;
Schoels, Ludger ;
Riess, Olaf ;
Bauer, Peter ;
Mueller, Ulrich ;
Grundmann, Kathrin .
MOVEMENT DISORDERS, 2010, 25 (12) :1982-1986
[10]   Novel THAP1 sequence variants in primary dystonia [J].
Xiao, J. ;
Zhao, Y. ;
Bastian, R. W. ;
Perlmutter, J. S. ;
Racette, B. A. ;
Tabbal, S. D. ;
Karimi, M. ;
Paniello, R. C. ;
Wszolek, Z. K. ;
Uitti, R. J. ;
Van Gerpen, J. A. ;
Simon, D. K. ;
Tarsy, D. ;
Hedera, P. ;
Truong, D. D. ;
Frei, K. P. ;
Batish, S. Dev ;
Blitzer, A. ;
Pfeiffer, R. F. ;
Gong, S. ;
LeDoux, M. S. .
NEUROLOGY, 2010, 74 (03) :229-238