Jiménez-García Ana Maria, Tortorella Maria Eduarda, Nishimura Agnes Lumi, Arias Natalia
BRABE Group, Department of Medicine and Health Sciences, Faculty of Life and Natural Sciences, University of Nebrija, C/del Hostal, 28248 Madrid, Spain.
Institute Paulo Gontijo, R. Maj. Prado, 42-Indianópolis, São Paulo 04517-020, SP, Brazil.
Int J Mol Sci. 2025 Jun 27;26(13):6199. doi: 10.3390/ijms26136199.
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are linked by shared genetic mutations and overlapping clinical features, forming a clinical spectrum. This systematic review and meta-analysis analysed 97 studies, including 3212 patients with key ALS/FTD gene mutations, to identify gene-specific behavioural profiles. () mutations were strongly associated with psychotic symptoms and aggression, while () mutations had minimal cognitive effects. () mutations correlated with apathy and hallucinations, () with disinhibition, and () with social impairments. () mutations caused early sleep disturbances, () led to disinhibition, and () was linked to severe aggression. Prodromal cognitive changes in , , and mutations suggested early disease onset. Despite overlapping symptoms and clinical heterogeneity, understanding gene-specific patterns could inform tailored care strategies to enhance the quality of life for ALS and FTD patients. This study calls for refined guidelines integrating genetic behavioural profiles to improve patient and family support.
肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）通过共同的基因突变和重叠的临床特征相互关联，形成了一个临床谱系。这项系统评价和荟萃分析对97项研究进行了分析，其中包括3212名携带关键ALS/FTD基因突变的患者，以确定基因特异性的行为特征。（）突变与精神病症状和攻击行为密切相关，而（）突变对认知的影响最小。（）突变与冷漠和幻觉相关，（）与脱抑制相关，（）与社交障碍相关。（）突变导致早期睡眠障碍，（）导致脱抑制，（）与严重攻击行为相关。，，和突变的前驱认知变化提示疾病早期发作。尽管存在症状重叠和临床异质性，但了解基因特异性模式可为量身定制的护理策略提供依据，以提高ALS和FTD患者的生活质量。本研究呼吁制定完善的指南，整合基因行为特征，以改善对患者及其家庭的支持。
