对多巴反应性 dystonia 和与 TH 基因变异相关的表型:系统性审查和墨西哥病例系列
Carlos Ulises Lopez-Urias1, Nancy Monroy-Jaramillo1, Renee Barreda Fierro2
1Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Insurgentes Sur 3877. La Fama, PC 14269, Tlalpan, Mexico City, Mexico.
概括
多巴反应性 dystonia (DRD) 是一种罕见的遗传疾病,具有多种症状,通常从婴儿期开始. 早期诊断和多巴胺替代疗法 (DRT) 的治疗对于管理这种情况至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 罕见疾病 罕见疾病
背景情况:
- 对多巴反应性 dystonia (DRD) 具有广泛的临床和遗传异质性.
- 症状包括帕金森症, dystonia 和震,严重程度从轻微到致命的脑病变.
- DRD主要是由氨酸氧酶 (TH) 基因的衰退性突变引起的.
研究的目的:
- 对所有报告的DRD病例进行全面的系统审查.
- 分析与氨酸氧化酶 (TH) 基因变异相关的表型,包括第一个墨西哥病例.
- 将DRD首次描述的数据整合到2024年第一季度.
主要方法:
- 在遵守PRISMA指南的基础上进行系统审查.
- 在五个数据库中进行搜索:Scopus,MEDLINE,PubMed Central,LILACS和Scielo.
- 包括到2024年第一季度DRD患者的所有公布报告.
主要成果:
- 在62个出版物中发现了179名TH缺乏症患者;143人有临床描述.
- 婴儿发病是典型的,诊断的延迟很大.
- 脑病变和精神运动迟缓是常见的;运动症状各不相同. 64.3%的人对多巴胺替代疗法 (DRT) 反应良好.
- 复合异合体基因型是最常见的 (61.45%);还描述了6例异合体变异的病例.
结论:
- 甲基氨酸缺乏症很少见,表现出显著的神经现象型变异.
- 这种情况通常在婴儿期出现,并且对DRT有很好的反应.
- 这次审查是迄今为止对TH缺陷病例的最全面的分析.
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