Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia

被引：1

作者：

Chen, Pin-Shiuan ^{[1
]}

Wu, Meng-Chen ^{[1
,2
]}

Tai, Chun-Hwei ^{[1
]}

Chang, Yung-Yee ^{[3
]}

Lan, Min-Yu ^{[3
]}

Chen, Ying-Fa ^{[3
]}

Lin, Han-, I ^{[1
]}

Lee, Ni-Chung ^{[4
]}

Lin, Chin-Hsien ^{[1
,5
]}

机构：

[1] Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan

[2] Natl Taiwan Univ Hosp, Dept Geriatr & Gerontol, Taipei, Taiwan

[3] Kaohsiung Chang Gung Mem Hosp, Ctr Parkinson Dis, Kaohsiung, Taiwan

[4] Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan

[5] Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 100, Taiwan

来源：

PARKINSONISM & RELATED DISORDERS | 2023年 / 107卷

关键词：

Dystonia; Inosine monophosphate dehydrogenase gene; IMPDH2;

D O I：

10.1016/j.parkreldis.2023.105294

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The inosine monophosphate dehydrogenase gene (IMPDH2) was recently reported as a novel gene associated with autosomal dominantly inherited dystonia. We investigated 245 Taiwanese patients with molecularly unassigned isolated or combined dystonia without features of neurodevelopmental disorders and found none had pathogenic variants. Our findings suggest that IMPDH2 may not play a major role in dystonia.

引用

页数：3

共 5 条

[1] Dystonia genes and their biological pathways [J].

Jinnah, H. A. ;

Sun, Yan V. .

NEUROBIOLOGY OF DISEASE, 2019, 129 :159-168

[2]

Klein Christine, 2014, Parkinsonism Relat Disord, V20 Suppl 1, pS137, DOI 10.1016/S1353-8020(13)70033-6

[3] IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder [J].

Kuukasjarvi, Anna ;

Landoni, Juan C. ;

Kaukonen, Jyrki ;

Juhakoski, Mika ;

Auranen, Mari ;

Torkkeli, Tommi ;

Velagapudi, Vidya ;

Suomalainen, Anu .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2021, 29 (12) :1833-1837

[4] A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan [J].

Wu, Meng-Chen ;

Chang, Yung-Yee ;

Lan, Min-Yu ;

Chen, Ying-Fa ;

Tai, Chun-Hwei ;

Lin, Yung-Feng ;

Tsai, Shih-Feng ;

Chen, Pei-Lung ;

Lin, Chin-Hsien .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (03) :262-273

[5] Monogenic variants in dystonia: an exome-wide sequencing study [J].

Zech, Michael ;

Jech, Robert ;

Boesch, Sylvia ;

Skorvanek, Matej ;

Weber, Sandrina ;

Wagner, Matias ;

Zhao, Chen ;

Jochim, Angela ;

Necpal, Jan ;

Dincer, Yasemin ;

Vill, Katharina ;

Distelmaier, Felix ;

Stoklosa, Malgorzata ;

Krenn, Martin ;

Grunwald, Stephan ;

Bock-Bierbaum, Tobias ;

Fecikova, Anna ;

Havrankova, Petra ;

Roth, Jan ;

Prihodova, Iva ;

Adamovicova, Miriam ;

Ulmanova, Olga ;

Bechyne, Karel ;

Danhofer, Pavlina ;

Vesely, Branislav ;

Han, Vladimir ;

Pavelekova, Petra ;

Gdovinova, Zuzana ;

Mantel, Tobias ;

Meindl, Tobias ;

Sitzberger, Alexandra ;

Schroeder, Sebastian ;

Blaschek, Astrid ;

Roser, Timo ;

Bonfert, Michaefa, V ;

Haberlandt, Edda ;

Plecko, Barbara ;

Leineweber, Birgit ;

Berweck, Steffen ;

Herberhold, Thomas ;

Langguth, Berthold ;

Svantnerova, Jana ;

Minar, Michal ;

Ramos-Rivera, Gonzalo Alonso ;

Wojcik, Monica H. ;

Pajusalu, Sander ;

Ounap, Katrin ;

Schatz, Ulrich A. ;

Poelsler, Laura ;

Milenkovic, Ivan .

LANCET NEUROLOGY, 2020, 19 (11) :908-918

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