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
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
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页数:3
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