Evidence map›Paper›PMID 40146714›Full record

ArticleAnnals of clinical and translational neurology2025

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

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Xiaosheng ZhengDepartment of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Chenxin YingDepartment of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Nan JinDepartment of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Jinghong MaDepartment of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, China.
Xinhua WanDepartment of Neurology, Peking Union Medical College Hospital, Beijing, China.
Xunhua LiNeurology Department, The First Affiliated Hospital, Sun-Yet Sen University, Guangzhou, China.
Wei LuoDepartment of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.ORCID 0000-0001-6951-7698

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Dystonic DisordersHumansIntronsPhenotypedeep intronic variantdopa‐responsive dystoniaTH

Identifiers

PMID40146714
PMCPMC12093331

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.