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

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收录情况： ◇ SCIE

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机构： [1]Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. [2]Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing, China. [3]Department of Neurology, Peking Union Medical College Hospital, Beijing, China. [4]Neurology Department, The First Affiliated Hospital, Sun-Yet Sen University, Guangzhou, China.

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关键词： deep intronic variant dopa-responsive dystonia TH

摘要：

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.© 2025 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

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出版当年[2025]版：

大类 | 2 区医学

小类 | 2 区临床神经病学 2 区神经科学

最新[2025]版：

大类 | 2 区医学

小类 | 2 区临床神经病学 2 区神经科学

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出版当年[2023]版：

Q1 CLINICAL NEUROLOGY Q1 NEUROSCIENCES

最新[2024]版：

Q1 CLINICAL NEUROLOGY Q2 NEUROSCIENCES

影响因子： 3.9 最新[2024版] 4.3 最新五年平均 4.4 出版当年[2023版] 5.1 出版当年五年平均 5.3 出版前一年[2022版] 3.9 出版后一年[2024版]

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第一作者机构： [1]Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

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