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

Pin-Shiuan Chen; Meng-Chen Wu; Chun-Hwei Tai; Yung-Yee Chang; Min-Yu Lan; Ying-Fa Chen; Han-I Lin; Ni-Chung Lee; Chin-Hsien Lin

doi:10.1016/j.parkreldis.2023.105294

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

Parkinsonism Relat Disord. 2023 Feb:107:105294. doi: 10.1016/j.parkreldis.2023.105294. Epub 2023 Jan 17.

Authors

Pin-Shiuan Chen¹, Meng-Chen Wu², Chun-Hwei Tai¹, Yung-Yee Chang³, Min-Yu Lan³, Ying-Fa Chen³, Han-I Lin¹, Ni-Chung Lee⁴, Chin-Hsien Lin⁵

Affiliations

¹ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
² Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Department of Geriatrics and Gerontology, National Taiwan University Hospital, Taipei, Taiwan.
³ Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
⁴ Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
⁵ Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: [email protected].

PMID: 36657279
DOI: 10.1016/j.parkreldis.2023.105294

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.

Keywords: Dystonia; IMPDH2; Inosine monophosphate dehydrogenase gene.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
Dystonia* / genetics
Humans
IMP Dehydrogenase / genetics

Substances

IMP Dehydrogenase
IMPDH2 protein, human