亨廷顿病与小CAG重复扩张的重复扩张
Anna Heinzmann1,2, Sabrina Sayah2, François-Xavier Lejeune1,3
1Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), APHP, INSERM, CRNS, Paris, France.
概括
在HTT基因中具有小CAG重复扩展 (36-38) 的个体表现出与具有典型亨廷顿病扩展 (40-42) 的个体相似的认知功能. 然而,它们往往表现出较少的运动症状,可能会延迟诊断.
科学领域:
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
- 神经学 神经学
背景情况:
- 传统上,HTT基因中小氨酸 - 氨酸 - 氨酸 (CAG) 重复扩张 (36-38) 与较轻的亨廷顿病 (HD) 有关.
- 这些个体的临床表现和详细的表型仍未得到充分研究.
- 了解他们的个人资料对于准确的诊断和遗传咨询至关重要.
研究的目的:
- 为了研究携带CAG36-38重复扩展HTT基因的个体的临床和神经心理学表型.
- 将CAG36-38载体的特性与CAG40-42载体的特性进行比较.
- 为了阐明导致诊断延迟的因素,在这个子组.
主要方法:
- 包括35名患者和具有CAG36-38重复的前体现载体.
- 对11名CAG36-38患者和11名匹配的CAG40-42患者的临床和神经心理学数据的比较分析.
- 利用来自ENROLL研究的243名CAG36-38个人的数据进行全面的表型描述.
主要成果:
- 在CAG36-38和CAG40-42携带者之间观察到类似的全球认知效率和子域性能.
- 在CAG36-38患者中,霍乱是一个明显较少的初始症状,尽管初始评估时的运动得分相似.
- 在上次访问时,CAG36-38运营商的总发动机得分明显较低.
- 临床医生对在CAG36-38载体中诊断HD的信心下降,导致尽管症状发病时年龄相似,但诊断时间明显晚.
- 从ENROLL数据库中确认了较大的队列中类似的认知和独特的运动概况 (CAG36-38: n=243; CAG40-42: n=4675).
结论:
- HTT基因中的小型CAG36-38扩展与更常见的CAG40-42扩展相似的认知特征相关,但与更常见的CAG40-42扩展有着不同的运动特征.
- 缺少胆固醇,而不是症状透率低,可能导致CAG36-38载体的分子诊断延迟.
- 神经科医生应考虑在患有认知障碍但没有典型胆固醇的老年患者中治疗HD,这对后代的遗传咨询有影响.
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