快速发作的肌张力障碍-帕金森病：非洲首例ATP1A3突变病例。

IF 3.4 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2025-07-28 DOI:10.1016/j.parkreldis.2025.107972

Hicham El Otmani , Asmae Sikkal , Aya Harrati , Ghita Hjiej , Hajar Khattab , Kamal Haddouali , Salma Bellakhdar , Bouchra El Moutawakil , Mohammed Abdoh Rafai

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引用次数: 0

摘要

快速发作性肌张力障碍-帕金森病（RDP），也被称为DYT12肌张力障碍，是一种罕见的神经系统疾病，由ATP1A3基因突变引起。它通常表现为突然或迅速进行性肌张力障碍、帕金森病和球症状，这些症状在发病后不久趋于稳定，对左旋多巴治疗几乎没有反应。我们报告了非洲第一例记录在案的RDP病例，涉及一名携带新型ATP1A3突变的摩洛哥患者。患者对左旋多巴表现出部分临床反应，挑战了对治疗反应的传统理解。该病例扩大了已知的该疾病的地理分布，并突出了治疗反应的差异。

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Rapid-onset dystonia-parkinsonism: First African case of ATP1A3 mutation

Rapid-onset dystonia-parkinsonism (RDP), also known as DYT12 dystonia, is a rare neurological disorder caused by a mutations in the ATP1A3 gene. It typically presents with a sudden or rapidly progressive onset of dystonia, parkinsonism, and bulbar symptoms, which tend to stabilize shortly after onset and show minimal to no response to levodopa treatment.

We report the first documented case of RDP in Africa, involving a Moroccan patient carrying a novel ATP1A3 mutation. The patient exhibited a partial clinical response to levodopa, challenging the conventional understanding of treatment response. This case broadens the known geographic distribution of the disorder and highlights the divergence in therapeutic response.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.