Division of Human Genetics, Department of Internal Medicine, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Clin Genet. 2021 Jan;99(1):133-142. doi: 10.1111/cge.13857. Epub 2020 Oct 16.
Huntington's disease is associated with motor, cognitive and behavioral dysfunction. Behavioral symptoms may present before, after, or simultaneously with clinical disease manifestation. The relationship between age of onset and behavioral symptom presentation and severity was explored using the Enroll-HD database. Manifest individuals (n = 4469) were initially divided into three groups for preliminary analysis: early onset (<30 years; n = 479); mid-adult onset (30-59 years; n = 3478); and late onset (>59 years; n = 512). Incidence of behavioral symptoms reported at onset was highest in those with early onset symptoms at 26% (n = 126), compared with 19% (n = 678) for mid-adult onset and 11% (n = 56) for late onset (P < 0.0001). Refined analysis, looking across the continuum of ages rather than between categorical subgroups found that a one-year increase in age of onset was associated with a 5.6% decrease in the odds of behavioral symptoms being retrospectively reported as the presenting symptom (P < 0.0001). By the time of study enrollment, the odds of reporting severe behavioral symptoms decreased by 5.5% for each one-year increase in reported age of onset. Exploring environmental, genetic and epigenetic factors that affect age of onset and further characterizing types and severity of behavioral symptoms may improve treatment and understanding of Huntington's disease's impact on affected individuals.
亨廷顿病与运动、认知和行为功能障碍有关。行为症状可能在临床疾病表现之前、之后或同时出现。本研究使用 Enroll-HD 数据库探讨了发病年龄与行为症状表现和严重程度之间的关系。最初将表现型个体(n = 4469)分为三组进行初步分析:早发性(<30 岁;n = 479);中成年发病(30-59 岁;n = 3478);晚发性(>59 岁;n = 512)。发病时报告的行为症状发生率在早发性症状患者中最高,为 26%(n = 126),中成年发病患者为 19%(n = 678),晚发性患者为 11%(n = 56)(P < 0.0001)。对跨越年龄连续体而不是分类亚组的精细分析发现,发病年龄每增加一岁,行为症状被回顾性报告为首发症状的几率就会降低 5.6%(P < 0.0001)。在研究入组时,报告严重行为症状的几率会随着发病年龄每增加一岁而降低 5.5%。探索影响发病年龄的环境、遗传和表观遗传因素,并进一步描述行为症状的类型和严重程度,可能会改善亨廷顿病的治疗和对受影响个体的认识。