Programa de Pós-graduação em Neurociências, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Departamento de Clínica Médica, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil.
Muscle Nerve. 2023 Sep;68(3):316-322. doi: 10.1002/mus.27927. Epub 2023 Jul 10.
INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) type 8 (ALS8) is caused by VAPB gene mutations. The differences between neuropsychological and behavioral profiles of patients with sporadic ALS (sALS) and those with ALS8 are unclear. We aimed to compare cognitive performance and behavioral aspects between sALS and ALS8 patients.
Our study included 29 symptomatic ALS8 patients (17 men; median age 49 years), 20 sALS patients (12 men; median age 55 years), and 30 healthy controls (16 men; median age 50 years), matched for sex, age, and education. Participants underwent neuropsychological assessments focused on executive functions, visual memory, and facial emotion recognition. Behavioral and psychiatric symptoms were evaluated using the Hospital Anxiety and Depression Scale and the Cambridge Behavioral Inventory.
Clinical groups (sALS and ALS8) exhibited lower global cognitive efficiency and impaired cognitive flexibility, processing speed, and inhibitory control compared with controls. ALS8 and sALS showed similar performance in most executive tests, except for poorer verbal (lexical) fluency in those with sALS. Apathy, anxiety, and stereotypical behaviors were frequent in both clinical groups.
sALS and ALS8 patients demonstrated similar deficits in most cognitive domains and had comparable behavioral profiles. These findings should be considered in the care of patients.
简介/目的：肌萎缩侧索硬化症（ALS）8 型（ALS8）是由 VAPB 基因突变引起的。散发性肌萎缩侧索硬化症（sALS）患者和 ALS8 患者在神经心理学和行为特征方面的差异尚不清楚。我们旨在比较 sALS 和 ALS8 患者的认知表现和行为方面。
我们的研究纳入了 29 名有症状的 ALS8 患者（17 名男性；中位年龄 49 岁）、20 名 sALS 患者（12 名男性；中位年龄 55 岁）和 30 名健康对照者（16 名男性；中位年龄 50 岁），这些对照者在性别、年龄和教育程度上与患者相匹配。参与者接受了神经心理学评估，重点是执行功能、视觉记忆和面部情绪识别。使用医院焦虑和抑郁量表和剑桥行为量表评估行为和精神症状。
临床组（sALS 和 ALS8）与对照组相比，整体认知效率较低，认知灵活性、处理速度和抑制控制受损。ALS8 和 sALS 在大多数执行测试中表现相似，但 sALS 患者的言语（词汇）流畅性较差。两种临床组均常见淡漠、焦虑和刻板行为。
sALS 和 ALS8 患者在大多数认知领域表现出相似的缺陷，且具有相似的行为特征。在患者的护理中应考虑到这些发现。
