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患有高氏病的成年人的神经症状:系统性审查
Gabriele Imbalzano1,2, Claudia Ledda1,2, Alberto Romagnolo1,2
1Department of Neuroscience "Rita Levi Montalcini", University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Journal of neurology
|May 21, 2024
概括
神经症状在成年高氏病 (GD) 患者中很常见,通常在晚年出现. 综合的神经学评估对于诊断GD至关重要,特别是在成年人中,神经学症状无法解释.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 氏病 (GD) 的分类传统上依赖于神经系统的参与,但成年人的表现是高度可变的.
- 成年GD患者的神经表现的范围在科学文献中仍未得到充分解决.
研究的目的:
- 系统地审查和分析成年高氏病患者的神经症状的全部范围.
- 评估特定的GBA1变体与不同的神经症状之间的关联.
主要方法:
- 对报告成人GD患者 (年龄≥18岁) 临床数据的研究的系统文献综述.
- 数据提取包括GD类型,GBA1变体,疾病发病/诊断时间表以及神经症状细节.
主要成果:
- 在85项研究中的4190名GD患者中,555名成年人出现了神经症状.
- 帕金森症是最常见的表现,其次是眼运动,外围神经病变和认知/精神症状.
- 特定的GBA1基因型 (N370S/N370S和L444P) 与不同的神经病理表现和症状发作相关.
结论:
- 对所有高氏病患者进行彻底的神经学评估是必不可少的.
- 在成年人呈现出无法解释的神经症状时,即使有轻微的全身症状,也应考虑未诊断的高希氏病.
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