变种前的雌性 具有preFXTAS的雌性
Valentina Liani1,2, Carme Torrents1,3, Elisa Rolleri1,4
1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA 95817, USA.
International journal of molecular sciences
|March 27, 2025
概括
脆弱X关联的震/缺氧综合征 (FXTAS) 在女性中呈现不同. 神经精神症状更为常见,这表明需要为这种FMR1基因前变异障碍制定新的诊断标准.
科学领域:
- 神经遗传学 神经遗传学
- 神经学 神经学
- 遗传学 是一个遗传学.
背景情况:
- 脆弱X关联震/缺氧综合征 (FXTAS) 是一种进展性神经退行性疾病,与FMR1基因前变异 (55-200次CGG重复) 有关.
- FXTAS通常影响60岁左右的男性,有运动和认知症状.
- 女性FXTAS的呈现和进展与男性显著不同.
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