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在肌缩侧面硬化症的认知和神经精神病学内类型

Emmet Costello^1,2, Marie Ryan¹, Bronagh Donohoe¹

¹Academic Unit of Neurology, Trinity Biomedical Science Institute, Dublin D02 R590, Ireland.

Brain communications

|June 8, 2023

概括

肌缩性侧面硬化症患者的亲属表现出认知和人格差异,这表明他们有共同的内分类型. 这些特征甚至出现在具有C9orf72扩展的家族中的非载体中.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
精神病学是一个精神病学.

背景情况:

肌缩侧面硬化症 (ALS) 患者的第一级和第二级亲属表现出更高的神经精神疾病率.
这表明ALS风险基因可能是类型的,影响家族内的多个特征.
这些共同的特征可能代表一种与ALS易感性相关的内类型.

研究的目的:

研究ALS患者的亲属的认知功能和神经精神特征.
为了确定与ALS责任相关的潜在内分类型.
探索家族史和C9orf72重复扩张状态的影响.

主要方法:

采用了以家庭为基础的横截面研究设计.
149名ALS患者的一级和二级亲属与60名对照人群进行了比较.
进行了深入的神经心理和神经精神病学评估.

主要成果:

在执行功能,语言和记忆任务上,特别是对象命名和语音语言流性方面,ALS的亲属得分较低.
亲属表现出更高的自闭症系数,对细节的注意力更高,良心更低,对经验的开放性更低.
这些影响在家族ALS病例的亲属中更为明显,在C9orf72扩展家族中的携带者和非携带者中都存在.

结论:

较差的语音流性,对象命名,以及特定的自闭症和人格特征在ALS亲属中更为常见.
一种与疾病相关的内分类型似乎存在于ALS的亲属中,它不仅仅是由C9orf72扩张的介导.
这些发现突显了ALS复杂的遗传和表型格局.

关键词:

骨髓缩侧面硬化症 (ALS) 是一种认知认知认知终极类型 (endophenotype) 是一种表现形式.

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