成年神经遗传障碍的诊断景观
Maggie W Waung1, Fion Ma2, Allison G Wheeler2,3
1Division of General Neurology, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94158, USA.
Biology
|December 22, 2023
概括
诊断成人神经遗传性疾病是具有挑战性的,因为不同的症状和有限的成人专注研究. 这项研究提供了一个框架,并讨论了改善诊断和患者护理的遗传工具.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 神经遗传性疾病在成年人中存在诊断挑战,通常涉及长期的治疗.
- 诊断的奥德赛. 诊断的奥德赛.
- 成人发病的神经遗传综合征具有多样化,未被认可的临床特征.
- 跨越多个专业,可能缺乏明确的家族史.
- 现有的遗传诊断文献主要侧重于儿科患者,
- 为成人案件创造一个知识差距.
研究的目的:
- 为识别成人神经遗传综合征提供一个框架.
- 描述这些条件的当前诊断方法.
- 突出下一代测序 (NGS) 在成人神经系统中的有用性.
- 疾病队列. 疾病队列.
主要方法:
- 对成人神经遗传障碍的当前诊断方法的审查.
- 对使用下一代测序在成人神经系统中进行的研究进行分析.
- 疾病队列. 疾病队列.
- 讨论诊断陷,障碍和新兴技术.
主要成果:
- 成年神经遗传综合征往往被误诊,或者由于神经遗传病因而没有被诊断出来.
- 复杂的表现和有限的成年人特定的诊断指南.
- 下一代测序显示了增加各种诊断产量的前景.
- 成年人的神经系统疾病.
- 几种障碍阻碍了成年人最终的遗传诊断,包括临床诊断.
- 复杂性和缺乏可访问的工具.
结论:
- 准确的基因诊断对于预后,复发风险评估和复发风险评估至关重要.
- 针对成人神经遗传疾病的向治疗.
- 一个结构化的框架和先进的遗传工具,如NGS是克服必不可少的.
- 成年人群中的诊断挑战.
- 需要进一步研究和开发以成年人为中心的诊断策略,以进一步研究和开发以成年人为中心的诊断策略.
- 改善患者的治疗结果.
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