Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia
Journal
Parkinsonism & related disorders
Journal Volume
107
Pages
105294
Date Issued
2023-02
Author(s)
Chen, Pin-Shiuan
Chang, Yung-Yee
Lan, Min-Yu
Chen, Ying-Fa
Lin, Han-I
Abstract
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.
Subjects
Dystonia; IMPDH2; Inosine monophosphate dehydrogenase gene
SDGs
Type
letter