Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Parkinsonism Relat Disord. 2019 Apr;61:101-105. doi: 10.1016/j.parkreldis.2018.11.009. Epub 2018 Nov 29.
The frequency of late-onset Huntington's disease (>59 years) is assumed to be low and the clinical course milder. However, previous literature on late-onset disease is scarce and inconclusive.
Our aim is to study clinical characteristics of late-onset compared to common-onset HD patients in a large cohort of HD patients from the Registry database.
Participants with late- and common-onset (30-50 years)were compared for first clinical symptoms, disease progression, CAG repeat size and family history. Participants with a missing CAG repeat size, a repeat size of ≤35 or a UHDRS motor score of ≤5 were excluded.
Of 6007 eligible participants, 687 had late-onset (11.4%) and 3216 (53.5%) common-onset HD. Late-onset (n = 577) had significantly more gait and balance problems as first symptom compared to common-onset (n = 2408) (P < .001). Overall motor and cognitive performance (P < .001) were worse, however only disease motor progression was slower (coefficient, -0.58; SE 0.16; P < .001) compared to the common-onset group. Repeat size was significantly lower in the late-onset (n = 40.8; SD 1.6) compared to common-onset (n = 44.4; SD 2.8) (P < .001). Fewer late-onset patients (n = 451) had a positive family history compared to common-onset (n = 2940) (P < .001).
Late-onset patients present more frequently with gait and balance problems as first symptom, and disease progression is not milder compared to common-onset HD patients apart from motor progression. The family history is likely to be negative, which might make diagnosing HD more difficult in this population. However, the balance and gait problems might be helpful in diagnosing HD in elderly patients.
晚发性亨廷顿病（>59 岁）的频率较低，且临床病程较轻。然而，关于晚发性疾病的既往文献很少且尚无定论。
我们旨在通过对亨廷顿病登记数据库中的大型患者队列进行研究，比较晚发性和常见发病的亨廷顿病患者的临床特征。
比较了晚发性和常见发病（30-50 岁）患者的首发临床症状、疾病进展、CAG 重复大小和家族史。排除 CAG 重复大小缺失、重复大小≤35 或 UHDRS 运动评分≤5 的患者。
在 6007 名合格的参与者中，有 687 名患有晚发性（11.4%）和 3216 名（53.5%）常见发病的亨廷顿病。与常见发病（n=2408）相比，晚发性（n=577）患者首发症状更常见为步态和平衡问题（P<0.001）。整体运动和认知表现（P<0.001）更差，但与常见发病组相比，疾病运动进展更慢（系数，-0.58；SE 0.16；P<0.001）。晚发性（n=40.8；SD 1.6）患者的重复大小明显低于常见发病（n=44.4；SD 2.8）（P<0.001）。与常见发病（n=2940）相比，晚发性（n=451）患者的阳性家族史较少（P<0.001）。
与常见发病的亨廷顿病患者相比，晚发性患者首发症状更常为步态和平衡问题，且疾病进展并不比常见发病患者更轻，除运动进展外。该人群的家族史可能为阴性，这可能使诊断 HD 更加困难。然而，平衡和步态问题可能有助于在老年患者中诊断 HD。
