双边前端周周结节异构:一个独特的皮质形
Ine Hoogwijs1, Simone A Mandelstam2, George McGillivray3
1Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Parkville, VIC, Australia; Pediatric Neurology Unit, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
双边前端周周结节异构 (PVNH) 呈现出各种临床结果,通常比其他PVNH类型温和. 基因检测发现了几个原因,但在这个PVNH队列中没有单一的复发性遗传因素.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 周室结节异形 (PVNH) 是一种常见的皮质形.
- 描述了双边前部PVNH的一个特定的成像表型.
- 这项研究提供了临床,成像和遗传特征的概述.
研究的目的:
- 描述双边前部PVNH的独特成像表型.
- 审查患有这种疾病的个体的临床,成像和遗传发现.
- 探索潜在的遗传基础和PVNH的分类.
主要方法:
- 脑部MRI,临床记录和遗传数据的回顾性审查.
- 从多个中心 (1996-2021) 分析了32名双边前部PVNH患者.
- 利用微阵列,外体和基因组测序进行遗传分析.
主要成果:
- 观察到一个小的,双边的额头PVNH结节的一致的成像表型.
- 相关的大脑形发生在72%的个体中.
- 临床表型包括 (22%) 和认知障碍 (41%);遗传诊断在38%的受试病例中得到了实现,鉴定了各种遗传原因.
结论:
- 双边额头PVNH与其他PVNH形式相比,具有可变但通常较温和的临床过程.
- 基因诊断率因测试方法而异,没有发现复发性遗传原因.
- 建议将PVNH分为三组,双边前部PVNH代表一个不同的模式.
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