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Article

Novel Phenotypes and Deep Intronic Variant Expand TH-Associated Dopa-Responsive Dystonia Spectrum.

Annals of clinical and translational neurology - 1 May 2025

Zheng Xiaosheng, Ying Chenxin, Jin Nan, Ma Jinghong, Wan Xinhua, Li Xunhua, Luo Wei

Abstract excerpt

Approximately 20% of dopa-responsive dystonia (DRD) cases remain genetically unresolved. Using whole-genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing. The patient exhibited an atypical disease progression compared with typical TH-associated DRD cases, presenting with generalized...

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PMID: 40146714
DOI: 10.1002/acn3.70013
PMCID: PMC12093331

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TH

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