C9orf72重复扩张最初呈现为晚发双极性障碍与精神病
Leslie S Gaynor1, Golnaz Yadollahikhales1, Elena Tsoy1,2
1Departments of Neurology.
The neurologist
|October 15, 2023
概括
C9orf72扩张,FTD和ALS的常见原因,可以最初呈现为双相情感障碍与精神病症状. 早期的神经学检查和基因检测对于晚发病例的准确诊断至关重要.
科学领域:
- 神经遗传学 神经遗传学
- 神经精神病学是一种神经精神病学.
- 老年医学 老年医学
背景情况:
- C9orf72扩张是前性痴呆症 (FTD) 和肌性侧面硬化症 (ALS) 的主要遗传原因.
- 精神病症状经常在FTD/ALS之前出现,但在发病时首要的精神病诊断是罕见的.
- 对双相情感障碍的遗传研究很少发现C9orf72扩展载体.
研究的目的:
- 报告C9orf72扩张的罕见病例,最初呈现为具有精神病特征的晚发性双相情感障碍.
- 突出诊断挑战,区分初级精神疾病与行为变异前性痴呆症 (bvFTD).
- 强调全面评估在怀疑晚发性双相情感障碍时的重要性.
主要方法:
- 一个51岁女性的病例报告,她有12年的精神病史和认知能力下降.
- 临床评估包括神经学检查,神经成像和死后组织病理学.
- 基因检测发现C9orf72扩张;家族病史显示父亲患有双相情感障碍和物质使用障碍.
主要成果:
- 这位患者最初在39岁时出现了躁狂和精神病症状,被诊断为双相情感障碍.
- 随着时间的推移,她发展了执行功能障碍,行为变化和与bvFTD一致的言语失调.
- 尸检结果证实了前叶退化,TDP-43入 (B型) 和C9orf72扩张.
结论:
- 这个案例说明C9orf72扩张最初表现为精神病的晚发性双相情感障碍,后来进展为bvFTD.
- 强调需要进行彻底的神经学检查和详细的家族史,以诊断晚发性双极性障碍.
- 强调基因查C9orf72扩散的价值,以区分初级精神疾病和bvFTD.
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