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

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.

Automated summary

We investigated 245 Taiwanese patients with dystonia and found no evidence to suggest a link between the inosine monophosphate dehydrogenase gene (IMPDH2) and the disease, suggesting that IMPDH2 may not play a major role in dystonia.