Novel Phenotypes and Deep Intronic Variant Expand TH ‐Associated Dopa‐Responsive Dystonia Spectrum
Year: 2025
Type: article
Study design: Case Report
Abstract: 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 dystonia, episodic hypotonia, Parkinsonism, and oromandibular dyskinesias. These findings, including the first known documented deep intronic TH variant, expand our understanding of TH-associated DRD's phenotypic and genotypic spectrum, aiding clinical evaluation.
DOI: 10.1002/acn3.70013
Institutions: Second Affiliated Hospital of Zhejiang University, Zhejiang University, Capital Medical University, Xuan Wu Hospital of the Capital Medical University, Chinese Academy of Medical Sciences & Peking Union Medical College, Peking Union Medical College Hospital, Sun Yat-sen University, The First Affiliated Hospital, Sun Yat-sen University
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $4,100
OpenAlex ID: W4408892498