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在女性携带DMD致病变体的携带者中,认知变化和大脑结构异常

Mariana Rabelo de Brito¹, Thiago Junqueira R Rezende¹, Stephany da Silva Passos¹

¹Department of Neurology, School of Medical Sciences, University of Campinas-UNICAMP, Universitaria "Zeferino Vaz", Rua Tessália Vieira de Camargo, 126. Cidade, Campinas, SP, 13083-887, Brazil.

Journal of neurology

|January 15, 2025

概括

杜申肌力发育不良 (DMD) 致病变体的女性携带者会经历认知障碍和大脑结构变化,特别是腰皮层稀薄. 这些发现强调了在临床实践中需要主动识别和管理.

科学领域:

神经学神经学
遗传学是一个遗传学.
神经成像是一种神经成像.

背景情况:

杜申肌力发育不良 (DMD) 致病变体 (DMDc) 的女性携带者越来越多地显示骨和心肌损伤.
在DMDc中认知障碍和结构性大脑变化尚未得到充分理解.

研究的目的:

描述巴西DMDc的认知特征.
用多式核磁共振成像 (MRI) 来调查DMDc中的结构性大脑异常.

主要方法:

33名DMDc和33名健康女性接受了认知评估 (ACE-R,BDI) 和3T大脑MRI.
卷度MRI (FreeSurfer,T1多图表,Cerebnet) 评估了皮层厚度和皮层下/小脑体积.
扩散张力成像 (DTI) 评估了白物质的完整性.

主要成果:

几乎一半的DMDc (48.5%) 表现出异常的认知,影响了注意力,语言流性,视觉空间能力,语言和记忆.
与对照人群相比,多种模式的MRI在DMDc中揭示了双边,对称的围-皮皮层缩.
周围皮层稀薄与注意力,记忆力和口语流性的缺陷相关.

结论:

DMDc不是无症状的,存在认知异常和结构性大脑变化.
帕里埃托-头皮层稀释是DMDc的一个关键发现.
积极识别和管理这些神经症状对于DMDc护理至关重要.

关键词:

携带DMD的载体大脑损伤脑损伤认知认知是一种认知.多模式核磁共振 (MRI) 是一种多模式核磁共振.

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